Congenital defects — Flashcards
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iodide (lack)
iodide (excess)
X-rays
fetal hydantoin syndrome
spina bifida with myelomeningocele
What congenital defects are associated with Down syndrome?
What congenital defects are associated with Patau's syndrome?
congenital pyloric stenosis
What is the most common tracheoesophageal anamoly?
Jejunal, ileal, and colonic atresia are due to failure of what embryological process?
Congenital defects US Medical PG Flashcards - Medical Study Cards
Master Congenital defects with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Congenital defects Flashcard Deck - 613 Cards
Flashcard 1: iodide (lack)
Answer: congenital goiter
Flashcard 2: iodide (excess)
Answer: congenital hypothyroidism
Flashcard 3: X-rays
Answer: microcephaly, mental retardation
Flashcard 4: fetal hydantoin syndrome
Answer:
Extra: in newborn: microcephaly, dysmorphic craniofacial features, hypoplastic nails and distal phalanges, cardiac defects, IUGR, mental retardation
Flashcard 5: spina bifida with myelomeningocele
Answer:
Extra: newborn with fluid- and tissue-filled sac protruding from lower spine surgery maternal folate deficiency failure of bony spinal canal closure with herniation of meninges and spinal cord
Flashcard 6: What congenital defects are associated with Down syndrome?
Answer: duodenal atresia/stenosis, cardiac abnormalities (ASD/VSD)
Flashcard 7: What congenital defects are associated with Patau's syndrome?
Answer: holoprosencephaly, cardiac abnormalities
Flashcard 8: congenital pyloric stenosis
Answer:
Extra: palpable "olive mass" in epigastric region, nonbilious projectile vomiting around 2 weeks of age surgical incision hypertrophy of the pylorus
Flashcard 9: What is the most common tracheoesophageal anamoly?
Answer: Esophageal atresia with distal transesophageal fistula (85%)
Flashcard 10: Jejunal, ileal, and colonic atresia are due to failure of what embryological process?
Answer: Vascular accident (apple peel atresia)
Flashcard 11: _____ is a congenital heart disease that is characterized by: 1. Pulmonary infundibular stenosis 2. Right ventricular hypertrophy 3. Overriding aorta 4. Ventricular septal defect (VSD)
Answer: Tetralogy of Fallot
Extra: Watch Right to Left Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-right-to-left-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki - right ventricular obstruction (due to pulmonary stenosis) → harsh systolic ejection murmur along left sternal border and single S2 (pulmonary component reduced) - note this isn't due to the VSD, it's due to the pulmonary stenosis. - RVH → RV heave
Flashcard 12: A(n) _____ immunoreactive trypsinogen may be indicative of cystic fibrosis
Answer: increased
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/pulmonology/videos/obstructive-lung-disease?index=10] https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 13: Biliary atresia presents with _____ and progresses to cirrhosis
Answer: jaundice (CB)
Extra: * Transaminases = ALT, AST Watch Lab Evaluation of Liver Injury & Hyperbilirubinemia [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pediatrics-hepatobiliary/videos/medical-pathophysiology-hepatobiliary-gallbladder-and-biliary-tract-disease-lab-evaluation-of-liver-injury-and-hyperbilirubinemia?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/visceral-anatomy?index=2] https://onlinemeded.org/spa/gastroenterology?ref=anki
Flashcard 14: ABO hemolytic disease of the newborn has the potential to occur when a Type _____ mother has a Type _____ fetus
Answer: O
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/embryology?index=4] https://onlinemeded.org?ref=anki
Flashcard 15: After closure of a PDA, severe _____ may cause heart failure and shock
Answer: coarctation of the aorta
Extra: Watch Left to Right Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-left-to-right-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/acyanotic-congenital-heart-defects?index=6] https://onlinemeded.org/spa/cardiac?ref=anki
Flashcard 16: One cause of cretinism is _____ mediated maternal hypothyroidism
Answer: antibody
Extra: Watch Hypothyroidism Overview & Hashimotos Thyroiditis [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-endocrine/videos/medical-pathophysiology-endocrine-thyroid-and-parathyroid-hypothyroidism-overview-and-hashimotos-thyroiditis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/endocrinology/thyroid/acquire?ref=anki
Flashcard 17: What is the leading cause of intellectual disability in the US? _____
Answer: Fetal alcohol syndrome
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/reproduction/videos/fetal-development?index=6] https://onlinemeded.org/spa/psychiatry/peds-neurodevelopmental/acquire?ref=anki
Flashcard 18: Which developmental pathology is characterized by bronchiectasis, recurrent sinusitis, and situs inversus? _____
Answer: Kartagener syndrome
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/histology/videos/epithelium?index=9] https://onlinemeded.org/spa/general-physiology/cytoskeleton/acquire?ref=anki recurrent sinusitits due to dysmotile cilia AKA primary ciliary dyskinesia
Flashcard 19: Which trisomy(trisomies) are characterized by decreased levels of hCG? _____
Answer: Trisomy 18 (Edward syndrome), trisomy 13 (Patau syndrome)
Extra: Watch Edwards & Patau Syndromes [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trisomy-diseases-edwards-and-patau-syndromes?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=6] https://onlinemeded.org/spa/genetics?ref=anki Atlas:
Flashcard 20: DiGeorge syndrome is characterized by _____ serum parathyroid hormone
Answer: decreased
Extra: Watch Parathyroid Gland Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-endocrine/videos/medical-pathophysiology-endocrine-thyroid-and-parathyroid-parathyroid-gland-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch B Cell Disorders & DiGeorge Syndrome [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-endocrine/videos/medical-pathophysiology-endocrine-thyroid-and-parathyroid-parathyroid-gland-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki
Flashcard 21: What is the second most common cause of genetic intellectual disability? _____
Answer: Fragile X syndrome (#1 is Down syndrome)
Extra: Watch Fragile X Syndrome [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trinucleotide-repeat-diseases-fragile-x-syndrome?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=5] https://onlinemeded.org/spa/psychiatry/peds-neurodevelopmental/acquire?ref=anki
Flashcard 22: The degree of shunting in Tetralogy of Fallot is determined by the degree of _____
Answer: right ventricular outflow tract obstruction (from pulmonary stenosis)
Extra: Watch Right to Left Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-right-to-left-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/cyanotic-congenital-heart-defects?index=3] https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 23: What ocular finding is classically seen in Tay-Sachs disease? _____
Answer: "Cherry-red" spot on macula
Extra: https://onlinemeded.org/spa/metabolism?ref=anki Atlas:
Flashcard 24: Bicuspid aortic valves occur in _____% of live births
Answer: 1-2
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/valvular-disease?index=4] https://onlinemeded.org?ref=anki
Flashcard 25: What cystic congenital kidney disease is non-inherited? _____
Answer: (Multicystic) dysplastic kidney
Extra: Watch Congenital & Cystic Kidney Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-congenital-and-chronic-kidney-disease-congenital-and-cystic-kidney-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/nephrology/videos/anatomy-and-embryology?index=4] https://onlinemeded.org/spa/renal?ref=anki Atlas:
Flashcard 26: The findings in Patau Syndrome may be remembered with the 5'Ps - cleft Palate - holoProsencephaly - P_____ - aPlasia cutis - Polycystic Kidney disease
Answer: olydactyly
Extra: Watch Edwards & Patau Syndromes [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trisomy-diseases-edwards-and-patau-syndromes?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=6] https://onlinemeded.org/spa/genetics?ref=anki Atlas:
Flashcard 27: What is the most common orthopedic disorder in newborns? _____
Answer: Developmental Dysplasia of the Hip
Extra: https://onlinemeded.org?ref=anki
Flashcard 28: _____ is a congenital hypertrophy of the pyloric smooth muscle
Answer: Pyloric stenosis
Extra: Watch Congenital GI Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-gi/videos/medical-pathophysiology-gi-small-bowel-disorders-congenital-gi-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/visceral-anatomy?index=2] https://onlinemeded.org?ref=anki Atlas:
Flashcard 29: _____ is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones
Answer: Cretinism
Extra: Watch Hypothyroidism Overview & Hashimotos Thyroiditis [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-endocrine/videos/medical-pathophysiology-endocrine-thyroid-and-parathyroid-hypothyroidism-overview-and-hashimotos-thyroiditis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/endocrinology/thyroid/acquire?ref=anki
Flashcard 30: Which form of Crigler-Najjar syndrome is more severe? _____
Answer: Type I
Extra: https://onlinemeded.org/spa/gastroenterology/jaundice/acquire?ref=anki
Flashcard 31: Does Hurler syndrome present with corneal clouding? _____
Answer: Yes
Extra: https://onlinemeded.org/spa/metabolism?ref=anki
Flashcard 32: Developmental Dysplasia of the Hip results from abnormal _____ development in newborns
Answer: acetabulum
Extra: https://onlinemeded.org?ref=anki
Flashcard 33: Neonatal _____ syndrome occurs due to exposure to opiate drugs while in the mother's womb
Answer: abstinence
Extra: Sketchy Pharmacology: Neuro/Psych Watch Opiates, naloxone, naltrexone [https://dashboard.sketchy.com/study/medical/courses/medical-pharmacology/units/medical-pharmacology-neuro-psych/videos/medical-pharmacology-neuropsych-anesthetics-and-analgesics-opiates-naloxone-naltrexone?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/psychiatry?ref=anki - usually presents in the first few days of life with irritability, sweating, and tachypnea - treat with morphine or methadone
Flashcard 34: The symptoms of Job syndrome may be remembered with the mnemonic "FATED": F: _____ A: cold (noninflamed) staphylococcal Abscesses T: retained primary Teeth E: increased IgE D: dermatologic problems (eczema)
Answer: coarse Facies
Extra: Watch Phagocytic Cell Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-immunology/videos/medical-pathophysiology-immunology-immunodeficiency-phagocytic-cell-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki
Flashcard 35: Hypothyroidism in the perinatal period causes irreversible _____
Answer: mental retardation (cretinism)
Extra: Watch Hypothyroidism Overview & Hashimotos Thyroiditis [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-endocrine/videos/medical-pathophysiology-endocrine-thyroid-and-parathyroid-hypothyroidism-overview-and-hashimotos-thyroiditis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/endocrinology/thyroid/acquire?ref=anki
Flashcard 36: Patients with Xeroderma Pigmentosum often present with freckled and dry skin, extreme _____ sensitivity, and corneal ulcers
Answer: sunlight
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-mutations-damage-and-repair?index=4] https://onlinemeded.org?ref=anki
Flashcard 37: Esophageal atresia with distal TEF presents with _____ in utero
Answer: polyhydramnios
Extra: Watch Polyhydramnios & Oligohydramnios [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-reproductive-gu/videos/medical-pathophysiology-reproductive-and-gu-gestational-disorders-polyhydramnios-and-oligohydramnios?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/visceral-anatomy?index=2] https://onlinemeded.org/spa/gastroenterology/esophagus/acquire?ref=anki Atlas:
Flashcard 38: Esophageal atresia with distal TEF is characterized by failure to pass a(n) _____ tube into the stomach
Answer: nasogastric
Extra: Watch Congenital GI Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-gi/videos/medical-pathophysiology-gi-small-bowel-disorders-congenital-gi-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/visceral-anatomy?index=2] https://onlinemeded.org/spa/gastroenterology/esophagus/acquire?ref=anki due to esophageal atresia Atlas:
Flashcard 39: _____ is a common presenting sign of sickle cell anemia in infants
Answer: Dactylitis
Extra: Watch Sickle Cell Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-normocytic-and-macrocytic-anemias-sickle-cell-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=4] https://onlinemeded.org/spa/pediatrics/sickle-cell-disease/acquire?ref=anki Other:
Flashcard 40: Tay-Sachs disease may present with progressive _____ and developmental delay
Answer: neurodegeneration
Extra: https://onlinemeded.org/spa/metabolism?ref=anki Atlas:
Flashcard 41: Ventricular septal defect (VSD) is associated with _____ syndrome
Answer: fetal alcohol
Extra: * baby is drinking alcohol bottle Watch Left to Right Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-left-to-right-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/acyanotic-congenital-heart-defects?index=3] https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki Atlas:
Flashcard 42: Meckel diverticulum typically presents during the first two _____ of life
Answer: years
Extra: * normally asymptomatic incidental finding Watch Congenital GI Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-gi/videos/medical-pathophysiology-gi-small-bowel-disorders-congenital-gi-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/colorectal-pathology?index=5] https://onlinemeded.org/spa/surgery-general/small-bowel/acquire?ref=anki Atlas:
Flashcard 43: Autosomal recessive PKD presents in infants as worsening renal failure and _____
Answer: hypertension
Extra: Watch Congenital & Cystic Kidney Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-congenital-and-chronic-kidney-disease-congenital-and-cystic-kidney-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/nephrology?ref=anki Atlas:
Flashcard 44: The symptoms of Wiskott-Aldrich syndrome may be remembered with the mnemonic "WATER": W: Wiskott A: Aldrich T: _____ E: Eczema R: Recurrent (pyogenic) infections
Answer: Thrombocytopenia (fewer and smaller platelets)
Extra: Watch Qualitative Platelet Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-coagulopathies-and-platelet-disorders-qualitative-platelet-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch Combined B & T Cell Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-coagulopathies-and-platelet-disorders-qualitative-platelet-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki
Flashcard 45: Congenital varicella syndrome can result in _____
Answer: dermatomal scarring
Extra: Watch Varicella zoster virus (Herpesviridae) [https://dashboard.sketchy.com/study/medical/courses/medical-microbiology/units/medical-microbiology-viruses/videos/medical-microbiology-viruses-dna-viruses-varicella-zoster-virus-herpesviridae?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/infectious-disease?ref=anki
Flashcard 46: Biliary atresia typically leads to biliary obstruction within the first 2 _____ of life
Answer: months
Extra: Watch Lab Evaluation of Liver Injury & Hyperbilirubinemia [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pediatrics-hepatobiliary/videos/medical-pathophysiology-hepatobiliary-gallbladder-and-biliary-tract-disease-lab-evaluation-of-liver-injury-and-hyperbilirubinemia?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/visceral-anatomy?index=2] https://onlinemeded.org?ref=anki
Flashcard 47: What sex chromosome disorder is associated with horseshoe kidney? _____
Answer: Turner syndrome
Extra: Watch Congenital & Cystic Kidney Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-congenital-and-chronic-kidney-disease-congenital-and-cystic-kidney-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/nephrology/videos/anatomy-and-embryology?index=4] https://onlinemeded.org/spa/nephrology?ref=anki Atlas:
Flashcard 48: Newborn males with posterior urethral valves may have a(n) _____ mass and bilateral hydronephrosis
Answer: midline
Extra: Watch Hydronephrosis & Urinary Tract Obstruction [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-urinary-tract-obstruction-hydronephrosis-and-urinary-tract-obstruction?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/nephrology/videos/anatomy-and-embryology?index=4] https://onlinemeded.org/spa/nephrology?ref=anki
Flashcard 49: Fetal alcohol syndrome and DiGeorge syndrome may predispose to _____
Answer: Tetralogy of Fallot
Extra: Watch B Cell Disorders & DiGeorge Syndrome [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-immunology/videos/medical-pathophysiology-immunology-immunodeficiency-b-cell-disorders-and-digeorge-syndrome?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/cyanotic-congenital-heart-defects?index=3] https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki
Flashcard 50: Which congenital RNA viral infection can present with blueberry muffin rash? _____
Answer: Congenital Rubella
Extra: https://onlinemeded.org/spa/infectious-disease?ref=anki
Flashcard 51: What chromosomal abnormality is commonly associated with endocardial cushion defects? _____
Answer: Trisomy 21 (Down syndrome)
Extra: Watch Down Syndrome [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trisomy-diseases-downs-syndrome?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 52: Laryngomalacia presents with inspiratory stridor during infancy due to collapse of _____ during inspiration
Answer: supraglottic tissues
Extra: https://onlinemeded.org?ref=anki
Flashcard 53: Congenital Rubella is characterized by _____ of the eye
Answer: cataracts
Extra: https://onlinemeded.org/spa/infectious-disease?ref=anki
Flashcard 54: Ovotesticular disorder of sex development, also known as true _____, is the presence of both ovarian and testicular tissue
Answer: hermaphroditism
Extra: https://onlinemeded.org?ref=anki
Flashcard 55: Intussusception is most common in patients under _____ years old
Answer: 2
Extra: * young child at telescope: infant population at risk for intussusception Watch Small Bowel Obstruction, Ileus & Hernias [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-gi/videos/medical-pathophysiology-gi-small-bowel-disorders-small-bowel-obstruction-ileus-and-hernias?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/intestinal-pathology?index=6] https://onlinemeded.org?ref=anki
Flashcard 56: Infants with _____ choanal atresia can present with upper airway obstruction and cyanosis with feeding
Answer: bilateral
Extra: https://onlinemeded.org?ref=anki
Flashcard 57: Patients who are experiencing _____ may draw their knees to their chest to ease the pain
Answer: intussusception
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/intestinal-pathology?index=6] https://onlinemeded.org?ref=anki
Flashcard 58: Hereditary spherocytosis may cause _____, manifesting as high-output heart failure and total body edema in the fetus
Answer: hydrops fetalis
Extra: Watch Extravascular Hemolysis Overview & RBC Membrane Defects [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-normocytic-and-macrocytic-anemias-extravascular-hemolysis-overview-and-rbc-membrane-defects?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=10] https://onlinemeded.org?ref=anki
Flashcard 59: Which ventral wall defect is associated with cardiac, GU, neural tube based structural abnormalities? _____
Answer: Omphalocele
Extra: https://onlinemeded.org?ref=anki
Flashcard 60: What is the most common cause of genetic intellectual disability? _____
Answer: Down syndrome
Extra: Watch Down Syndrome [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trisomy-diseases-downs-syndrome?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=6] https://onlinemeded.org/spa/psychiatry/peds-neurodevelopmental/acquire?ref=anki Atlas:
Flashcard 61: Defects with left-to-right shunting may be relatively asymptomatic at birth, but the shunt can eventually _____
Answer: reverse
Extra: Watch Left to Right Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-left-to-right-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/acyanotic-congenital-heart-defects?index=2] https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 62: D-transposition of great vessels is not compatible with life unless a(n) _____ is created
Answer: shunt
Extra: Watch Right to Left Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-right-to-left-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/cyanotic-congenital-heart-defects?index=4] https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 63: Wilms tumor may present with _____ due to increased renin secretion
Answer: hypertension
Extra: Watch Renal Cell Carcinoma & Nephroblastoma [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-renal-cancer-renal-cell-carcinoma-and-nephroblastoma?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/renal?ref=anki Atlas:
Flashcard 64: Is dysplastic kidney heritable? _____
Answer: No
Extra: Watch Congenital & Cystic Kidney Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-congenital-and-chronic-kidney-disease-congenital-and-cystic-kidney-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/nephrology/videos/anatomy-and-embryology?index=4] https://onlinemeded.org/spa/renal?ref=anki Atlas:
Flashcard 65: Umbilical hernias can be seen in association with _____
Answer: down syndrome
Extra: https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 66: Hypospadias may present with _____ and _____ at birth due to urinary outlet obstruction
Answer: post-renal AKI
Extra: * can lead to post-renal AKI and hydronephrosis in severe cases Watch Bladder Cancer & Penile Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-reproductive-gu/videos/medical-pathophysiology-reproductive-and-gu-male-gu-bladder-cancer-and-penile-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch Large & Medium Vessel Vasculitides [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-vascular/videos/medical-pathophysiology-vascular-vasculitides-large-and-medium-vessel-vasculitides?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org?ref=anki
Flashcard 67: One cause of cretinism is _____, which is due to a congenital defect in thyroid hormone production
Answer: dyshormonogenetic goiter
Extra: * Dyshormonogenetic goiter (congenital defect in thyroid hormone production) most commonly involves a thyroid peroxidase deficiency Watch Hypothyroidism Overview & Hashimotos Thyroiditis [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-endocrine/videos/medical-pathophysiology-endocrine-thyroid-and-parathyroid-hypothyroidism-overview-and-hashimotos-thyroiditis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/endocrinology/thyroid/acquire?ref=anki
Flashcard 68: Which immunodeficiency is associated with increased serum alpha-fetoprotein (AFP)? _____
Answer: Ataxia-telangiectasia
Extra: Watch Combined B & T Cell Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-immunology/videos/medical-pathophysiology-immunology-immunodeficiency-combined-b-and-t-cell-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki Atlas:
Flashcard 69: Risk factors for Developmental Dysplasia of the Hip include Females, Firstborns, F_____, and Family History
Answer: eet First (breech presentations)
Extra: https://onlinemeded.org?ref=anki
Flashcard 70: Congenital hydrocephalus often presents initially with macrocephaly, muscle _____tonicity and _____reflexia, and a(n) bulging fontanelle
Answer: hyper
Extra: Watch Hydrocephalus [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-neuro/videos/medical-pathophysiology-neuro-intracranial-hypertension-and-tumors-hydrocephalus?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/neurology/videos/embryology?index=8] https://onlinemeded.org?ref=anki
Flashcard 71: Picking of the skin or biting of the lips due to hyperuricemia is seen in _____ syndrome
Answer: Lesch-Nyhan
Extra: https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 72: Duodenal atresia is associated with _____ syndrome
Answer: Down
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/visceral-anatomy?index=2] https://onlinemeded.org/spa/surgery-general/small-bowel/acquire?ref=anki Atlas: failure to recanalize
Flashcard 73: Congenital Rubella is characterized by _____ of the head
Answer: microcephaly
Extra: https://onlinemeded.org/spa/infectious-disease?ref=anki
Flashcard 74: Down syndrome presents with _____ inhibin A
Answer: increased
Extra: Watch Down Syndrome [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trisomy-diseases-downs-syndrome?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=6] https://onlinemeded.org/spa/genetics?ref=anki Atlas:
Flashcard 75: Congenital Rubella is characterized by _____ of the skin
Answer: jaundice
Extra: https://onlinemeded.org/spa/infectious-disease?ref=anki
Flashcard 76: Rank the following from highest to lowest prevalence: ASD, PDA, VSD _____
Answer: VSD > ASD > PDA
Extra: Watch Left to Right Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-left-to-right-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/acyanotic-congenital-heart-defects?index=2] https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 77: Trisomy 21 is associated with _____, which are elevated white spots on the iris
Answer: Brushfield spots
Extra: Watch Down Syndrome [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trisomy-diseases-downs-syndrome?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=6] https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 78: The infantile form of coarctation of the aorta is associated with _____ syndrome
Answer: Turner
Extra: Watch Left to Right Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-left-to-right-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/aortic-disease?index=10] https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki Atlas:
Flashcard 79: Actinomycin D can be used to treat the pediatric tumors, such as _____ tumor, Ewing sarcoma, and rhabdomyosarcoma
Answer: Wilms
Extra: Watch Bleomycin, doxorubicin, daunorubicin, actinomycin D [https://dashboard.sketchy.com/study/medical/courses/medical-pharmacology/units/medical-pharmacology-antineoplastics/videos/medical-pharmacology-antineoplastics-dna-and-cellular-division-bleomycin-doxorubicin-daunorubicin-actinomycin-d?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org?ref=anki
Flashcard 80: Which neurocutaneous disorder is associated with somatic mosaicism? _____
Answer: Sturge-Weber syndrome
Extra: Watch Sturge Weber & Tuberous Sclerosis [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-neuro/videos/medical-pathophysiology-neuro-congenital-and-neurocutaneous-sturge-weber-and-tuberous-sclerosis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/neurology?ref=anki
Flashcard 81: Which type of thalassemia (α or β) is associated with a "crewcut" skull appearance on X-ray? _____
Answer: β-thalassemia (major)
Extra: https://onlinemeded.org/spa/cirrhosis-iii-acute-decompensation?ref=anki Atlas: Other:
Flashcard 82: Congenital diaphragmatic hernia is associated with lung _____ and a(n) scaphoid abdomen
Answer: hypoplasia
Extra: Watch Congenital GI Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-gi/videos/medical-pathophysiology-gi-small-bowel-disorders-congenital-gi-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/non-visceral-anatomy?index=6] https://onlinemeded.org/spa/surgery?ref=anki Atlas: hole in the diaphgram that allows abdominal organs to go into chest; causes pulmonary hypoplasia (squishes lungs)
Flashcard 83: Teratogenic effects of vitamin A include _____ abnormalities and cleft palate
Answer: cardiac
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/physiology?index=16] https://onlinemeded.org/spa/metabolism?ref=anki
Flashcard 84: Congenital Syphilis is characterized by _____ molars, characterized by enamel outgrowth
Answer: Mulberry
Extra: Watch Treponema pallidum [https://dashboard.sketchy.com/study/medical/courses/medical-microbiology/units/medical-microbiology-bacteria/videos/medical-microbiology-bacteria-spirochetes-treponema-pallidum?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/infectious-disease?ref=anki
Flashcard 85: Ataxia-telangiectasia is associated with increased risk of _____ and leukemia
Answer: lymphoma
Extra: * lack of surveillance leads to leukemias and lymphomas Watch Combined B & T Cell Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-immunology/videos/medical-pathophysiology-immunology-immunodeficiency-combined-b-and-t-cell-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki Atlas:
Flashcard 86: Juvenile polyposis syndrome is characterized by numerous _____ polyps WITHOUT hyperpigmentation
Answer: hamartomatous
Extra: Watch Colorectal Polyps & Cancer [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-gi/videos/medical-pathophysiology-gi-colorectal-and-anal-disorders-colorectal-polyps-and-cancer?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/colorectal-pathology?index=18] https://onlinemeded.org/spa/gastroenterology/colon-cancer/acquire?ref=anki
Flashcard 87: What anemia presents with short stature, craniofacial abnormalities, and triphalangeal thumbs? _____
Answer: Diamond-Blackfan anemia
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/macrocytic-anemia?index=8] https://onlinemeded.org/spa/hematology-oncology/macrocytic-anemia/acquire?ref=anki Other:
Flashcard 88: Ostium _____ is a less common type of atrial septal defect that is associated with Down syndrome
Answer: primum
Extra: Watch Left to Right Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-left-to-right-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/acyanotic-congenital-heart-defects?index=4] https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki Atlas:
Flashcard 89: _____ syndrome causes jaundice and kernicterus early in life; patients often die within a few years
Answer: Crigler-Najjar
Extra: Watch Lab Evaluation of Liver Injury & Hyperbilirubinemia [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pediatrics-hepatobiliary/videos/medical-pathophysiology-hepatobiliary-gallbladder-and-biliary-tract-disease-lab-evaluation-of-liver-injury-and-hyperbilirubinemia?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/pancreatic-and-biliary-pathology?index=16] https://onlinemeded.org/spa/gastroenterology/jaundice/acquire?ref=anki
Flashcard 90: Elevated α-fetoprotein (AFP) can be associated with _____ defects (ex. Omphalocele)
Answer: abdominal wall
Extra: Watch Neural Tube Defects, Holoprosencephaly, Chiari Malformation & Syringomyelia [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-neuro/videos/medical-pathophysiology-neuro-congenital-and-neurocutaneous-neural-tube-defects-holoprosencephaly-chiari-malformation-and-syringomyelia?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org?ref=anki
Flashcard 91: The autosomal recessive form of polycystic kidney disease typically presents in _____
Answer: infants
Extra: Watch Autosomal Recessive Diseases [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-autosomal-recessive-diseases-autosomal-recessive-diseases?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch Congenital & Cystic Kidney Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-congenital-and-chronic-kidney-disease-congenital-and-cystic-kidney-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/nephrology?ref=anki Atlas:
Flashcard 92: What ocular finding is classically seen in Niemann Pick disease? _____
Answer: "Cherry-red" spot on macula
Extra: https://onlinemeded.org/spa/metabolism?ref=anki
Flashcard 93: What is the most common primary cardiac tumor in children? _____
Answer: Rhabdomyoma
Extra: https://onlinemeded.org/spa/cardiac?ref=anki
Flashcard 94: What mineral deficiency is associated with acrodermatitis enteropathica? _____
Answer: Zinc deficiency
Extra: https://onlinemeded.org/spa/biochemistry?ref=anki
Flashcard 95: Which congenital cardiovascular defects are associated with 22q11 syndrome? _____
Answer: Truncus arteriosus & Tetralogy of Fallot
Extra: * Also called Digeorge syndrome; "22" & "11" helmet on goblin and hairpin on long-haired girl https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki
Flashcard 96: Congenital Rubella is characterized by _____ and/or pulmonary artery stenosis
Answer: patent ductus arteriosus
Extra: https://onlinemeded.org/spa/infectious-disease?ref=anki
Flashcard 97: Does Tay-Sachs disease present with hepatosplenomegaly? _____
Answer: No
Extra: https://onlinemeded.org/spa/metabolism?ref=anki
Flashcard 98: Congenital defects are the _____ leading cause of death in children
Answer: 3rd
Extra: https://onlinemeded.org?ref=anki
Flashcard 99: What is the most common congenital male reproductive abnormality? _____
Answer: Cryptorchidism
Extra: Watch Testicular Disorders & Cancer [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-reproductive-gu/videos/medical-pathophysiology-reproductive-and-gu-male-gu-testicular-disorders-and-cancer?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/musculoskeletal/videos/high-yield-step-1-anatomy?index=47] https://onlinemeded.org/spa/endocrinology?ref=anki
Flashcard 100: Is tuberous sclerosis inherited or sporadic? _____
Answer: Inherited
Extra: Watch Sturge Weber & Tuberous Sclerosis [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-neuro/videos/medical-pathophysiology-neuro-congenital-and-neurocutaneous-sturge-weber-and-tuberous-sclerosis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/neurology?ref=anki Atlas:
Flashcard 101: Patients with a 5a-reductase deficiency commonly also have a micropenis and _____spadias
Answer: hypo
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/reproduction/videos/fetal-development?index=18] https://onlinemeded.org?ref=anki
Flashcard 102: Congenital Rubella infection is characterized by a classic triad of _____, _____, and _____
Answer: cataracts
Extra: https://onlinemeded.org/spa/infectious-disease?ref=anki
Flashcard 103: _____ is the failure of the testicle to descend into the scrotal sac
Answer: Cryptorchidism
Extra: Watch Testicular Disorders & Cancer [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-reproductive-gu/videos/medical-pathophysiology-reproductive-and-gu-male-gu-testicular-disorders-and-cancer?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/musculoskeletal/videos/high-yield-step-1-anatomy?index=47] https://onlinemeded.org/spa/endocrinology?ref=anki
Flashcard 104: Wiskott-Aldrich syndrome is associated with increased risk for autoimmune disease and _____
Answer: malignancy
Extra: *Wasp nest= Wiskott-Aldrich Watch Combined B & T Cell Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-immunology/videos/medical-pathophysiology-immunology-immunodeficiency-combined-b-and-t-cell-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki
Flashcard 105: What is the mode of inheritance of Bartter syndrome? _____
Answer: Autosomal recessive
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/nephrology/videos/nephron-transporters?index=4] https://onlinemeded.org/spa/renal?ref=anki
Flashcard 106: Which congenital DNA viral infection can present with blueberry muffin rash? _____
Answer: Congenital CMV
Extra: https://onlinemeded.org/spa/infectious-disease?ref=anki
Flashcard 107: Retinoblastoma is an eye cancer associated with a(n) _____ reflex, rather than the normal red reflex
Answer: white
Extra: https://onlinemeded.org/spa/pediatrics/ophthalmology/acquire?ref=anki Atlas:
Flashcard 108: Calcium phosphate stones are the most common kidney stone found in _____
Answer: children
Extra: Watch Calcium Oxalate Stones & Calcium Phosphate Stones [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-urinary-tract-obstruction-calcium-oxalate-stones-and-calcium-phosphate-stones?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/nephrology/videos/nephrolithiasis?index=4] https://onlinemeded.org/spa/nephrology/kidney-stones/acquire?ref=anki
Flashcard 109: Ebstein anomaly manifests as early cyanosis and dilation of the _____ in an infant
Answer: right atrium
Extra: Watch Right to Left Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-right-to-left-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/cyanotic-congenital-heart-defects?index=6] https://onlinemeded.org/spa/cardiac?ref=anki
Flashcard 110: Potter sequence may be caused by _____ (e.g. posterior urethral valves)
Answer: bladder outlet obstruction
Extra: Watch Congenital & Cystic Kidney Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-congenital-and-chronic-kidney-disease-congenital-and-cystic-kidney-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch Polyhydramnios & Oligohydramnios [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-congenital-and-chronic-kidney-disease-congenital-and-cystic-kidney-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/nephrology/videos/anatomy-and-embryology?index=4] https://onlinemeded.org/spa/nephrology?ref=anki - A posterior urethral valve is an obstructing membrane at the end of the bladder - It is the most common cause of bladder outlet obstruction in male newborns (can't pee out amniotic fluid → oligohydramnios → Potter sequence) - Potter sequence (oligohydramnios, limb/facial deformities, and pulmonary hypoplasia) due to lack of amniotic "cushion"
Flashcard 111: Leukocyte adhesion deficiency is characterized by recurrent bacterial infections (skin and mucosal) with absent _____ formation
Answer: pus
Extra: Watch Phagocytic Cell Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-immunology/videos/medical-pathophysiology-immunology-immunodeficiency-phagocytic-cell-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki UWorld: - patients also have impaired wound healing and severe periodontal disease - pus = dead neutrophils - no neutrophil out = no pus
Flashcard 112: What congenital anomaly presents with meconium discharge from the umbilicus? _____
Answer: Vitelline fistula
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/embryology/videos/abdominopelvic-systems-digestive-urinary-and-reproductive?index=3] https://onlinemeded.org/spa/surgery-general/small-bowel/acquire?ref=anki Atlas:
Flashcard 113: What pathology is associated with "elfin" facies, intellectual disability, and extreme friendliness with strangers? _____
Answer: Williams syndrome
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=7] https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 114: What microdeletion syndrome is associated with supravalvular aortic stenosis and renal artery stenosis? _____
Answer: Williams syndrome
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=7] https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 115: Volvulus of the _____ is more commonly seen in infants and children
Answer: midgut
Extra: Watch Large Bowel & Appendiceal Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-gi/videos/medical-pathophysiology-gi-colorectal-and-anal-disorders-large-bowel-and-appendiceal-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/intestinal-pathology?index=9] https://onlinemeded.org/spa/surgery-general/small-bowel/acquire?ref=anki Atlas:
Flashcard 116: Classic galactosemia causes brain damage, which manifests as _____
Answer: intellectual disability
Extra: Watch Metabolism Disorders Galactose [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-metabolism/videos/medical-biochemistry-metabolism-carbohydrates-metabolism-and-disorders-of-galactose?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/metabolism?ref=anki
Flashcard 117: _____ is derived from neural crest derivatives, manifesting as capillary malformations in the brain, eyes, and skin
Answer: Sturge-Weber syndrome
Extra: Watch Sturge Weber & Tuberous Sclerosis [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-neuro/videos/medical-pathophysiology-neuro-congenital-and-neurocutaneous-sturge-weber-and-tuberous-sclerosis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org?ref=anki
Flashcard 118: IgA nephropathy typically presents during childhood with episodic gross or microscopic _____-uria or RBC casts
Answer: hemat
Extra: Watch Nephritic Syndrome [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-glomerulopathy-nephritic-syndrome?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/nephrology/videos/nephritic-syndromes?index=6] https://onlinemeded.org/spa/renal/nephritic-syndrome/acquire?ref=anki Atlas:
Flashcard 119: Hirschsprung disease is characterized by failure to _____ within 48 hours and chronic constipation
Answer: pass meconium
Extra: Watch Congenital GI Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-gi/videos/medical-pathophysiology-gi-small-bowel-disorders-congenital-gi-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/colorectal-pathology?index=6] https://onlinemeded.org?ref=anki Atlas:
Flashcard 120: Why is β-thalassemia major not problematic at birth? _____
Answer: High HbF is temporarily protective
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/microcytic-anemia?index=18] https://onlinemeded.org/spa/cirrhosis-iii-acute-decompensation?ref=anki Atlas: Other:
Flashcard 121: Hunter syndrome presents as a(n) milder form of Hurler syndrome with _____ behavior
Answer: aggressive
Extra: https://onlinemeded.org/spa/biochemistry?ref=anki
Flashcard 122: In sickle cell disease, the spleen becomes enlarged and dysfunctional in _____ ("splenic fatigue")
Answer: early childhood (functional asplenia by age 5)
Extra: * due to occlusion of microvasculature by sickled RBCs Watch Sickle Cell Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-normocytic-and-macrocytic-anemias-sickle-cell-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=6] https://onlinemeded.org/spa/pediatrics/sickle-cell-disease/acquire?ref=anki
Flashcard 123: Choanal atresia is characterized by congenital obstruction of _____ passages
Answer: posterior nasal
Extra: https://onlinemeded.org/spa/pediatrics?ref=anki
Flashcard 124: Does ASD present with a systolic or diastolic murmur? _____
Answer: Both :)
Extra: Watch Left to Right Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-left-to-right-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/cardiac?ref=anki
Flashcard 125: What pathology is also known as "happy puppet" syndrome? _____
Answer: Angelman syndrome
Extra: Watch Disorders of Imprinting (Prader Willi & Angelman Syndromes) [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-disorders-of-imprinting-and-microdeletion-disorders-of-imprinting-prader-willi-and-angelman-syndromes?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=2] https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 126: Patients with Tetralogy of Fallot often experience "_____ spells" which may be caused by crying, fever, and exercise due to exacerbation of RV outflow obstruction
Answer: tet
Extra: Watch Right to Left Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-right-to-left-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/cyanotic-congenital-heart-defects?index=3] https://onlinemeded.org/spa/cardiology/valvular-disease/acquire?ref=anki (i.e. crying ↑ pulmonary stenosis and increases pulmonary resistance, so more deoxygenated blood shunted across VSD to aorta, worsening cyanosis)
Flashcard 127: The most common cause of bladder outlet obstruction in male infants is _____
Answer: posterior urethral valves
Extra: Watch Hydronephrosis & Urinary Tract Obstruction [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-urinary-tract-obstruction-hydronephrosis-and-urinary-tract-obstruction?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/nephrology/videos/anatomy-and-embryology?index=4] https://onlinemeded.org/spa/pediatrics/urology/acquire?ref=anki Classic findings on prenatal US include bladder distension and bilateral hydronephrosis; this condition does not occur in girls; treat with valve ablation
Flashcard 128: Osteogenesis imperfecta is characterized by multiple recurrent _____ with minimal trauma
Answer: fractures
Extra: Watch Congenital Bone Disorders Osteogenesis Imperfecta, Achondroplasia & Osteopetrosis [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-musculoskeletal-derm/videos/medical-pathophysiology-musculoskeletal-and-derm-bone-congenital-bone-disorders-osteogenesis-imperfecta-achondroplasia-and-osteopetrosis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org?ref=anki
Flashcard 129: WILMS tumor is an early childhood renal malignancy that presents with an abdominal mass that is usually _____
Answer: asymptomatic
Extra: https://onlinemeded.org/spa/renal?ref=anki
Flashcard 130: Tricuspid atresia is an example of a(n) _____-to-_____ shunt
Answer: right
Extra: Watch Right to Left Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-right-to-left-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/cyanotic-congenital-heart-defects?index=6] https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 131: Does achondroplasia affect mental function, life span, and/or fertility? _____
Answer: No
Extra: Watch Congenital Bone Disorders Osteogenesis Imperfecta, Achondroplasia & Osteopetrosis [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-musculoskeletal-derm/videos/medical-pathophysiology-musculoskeletal-and-derm-bone-congenital-bone-disorders-osteogenesis-imperfecta-achondroplasia-and-osteopetrosis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 132: Maternal PKU may present with _____-cephaly, intellectual disability, growth retardation, and congenital heart defects in the infant
Answer: micro
Extra: https://onlinemeded.org/spa/dna-to-protein/amino-acids/acquire?ref=anki Other: BH4 = tetrahydrobiopterin
Flashcard 133: What teratogen causes a smooth philtrum and thin upper lip in newborns? _____
Answer: Alcohol (fetal alcohol syndrome)
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/reproduction/videos/fetal-development?index=6] https://onlinemeded.org?ref=anki
Flashcard 134: The most common cause of seizure in children is typically _____
Answer: genetic
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/neurology/videos/seizures?index=2] https://onlinemeded.org/spa/pediatrics/seizures/acquire?ref=anki
Flashcard 135: Which ocular complication is associated with congenital Rubella? _____
Answer: Cataracts
Extra: https://onlinemeded.org?ref=anki
Flashcard 136: Which immunodeficiency presents with delayed separation of the umbilical cord (>30 days)? _____
Answer: Leukocyte adhesion deficiency
Extra: Watch Phagocytic Cell Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-immunology/videos/medical-pathophysiology-immunology-immunodeficiency-phagocytic-cell-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki UWorld:
Flashcard 137: Patients with Edwards syndrome and Patau syndrome often die within _____ year(s) of birth
Answer: 1
Extra: Watch Edwards & Patau Syndromes [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trisomy-diseases-edwards-and-patau-syndromes?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/genetics?ref=anki Atlas:
Flashcard 138: The skin findings in McCune-Albright syndrome will be _____lateral
Answer: uni
Extra: Watch Hyperpituitarism [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-endocrine/videos/medical-pathophysiology-endocrine-hypothalamic-and-pituitary-disorders-hyperpituitarism?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 139: Is Gastroschisis associated with chromosomal abnormalities? _____
Answer: No
Extra: Watch Congenital GI Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-gi/videos/medical-pathophysiology-gi-small-bowel-disorders-congenital-gi-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org?ref=anki
Flashcard 140: What symptoms does ventricular septal defect typically present with at birth? _____
Answer: Typically asymptomatic
Extra: Watch Left to Right Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-left-to-right-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/acyanotic-congenital-heart-defects?index=3] https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki Atlas:
Flashcard 141: Congenital Rubella is characterized by _____ of the ear
Answer: sensorineural deafness
Extra: https://onlinemeded.org/spa/infectious-disease?ref=anki
Flashcard 142: In children, primary CNS tumors are usually _____-tentorial
Answer: infra
Extra: Watch Adult CNS Tumors [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-neuro/videos/medical-pathophysiology-neuro-intracranial-hypertension-and-tumors-adult-cns-tumors?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch Pediatric CNS Tumors [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-neuro/videos/medical-pathophysiology-neuro-intracranial-hypertension-and-tumors-adult-cns-tumors?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/neurology/videos/adult-primary-brain-tumors?index=2] https://onlinemeded.org?ref=anki
Flashcard 143: Do strawberry (superficial) hemangiomas regress? _____
Answer: Yes
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/dermatology/videos/additional-dermatologic-disorders?index=4] https://onlinemeded.org?ref=anki
Flashcard 144: Which form of Rubella, adult or congenital, presents with sensorineural deafness? _____
Answer: Congenital
Extra: https://onlinemeded.org/spa/infectious-disease?ref=anki
Flashcard 145: _____ syndrome is an immunodeficiency with a normal thymus that presents clinically as abnormal facies, cleft palate, and cyanotic congenital heart disease
Answer: Velocardiofacial
Extra: https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki
Flashcard 146: Which congenital infection presents as chorioretinitis, hydrocephalus, and intracranial calcifications? _____
Answer: Congenital toxoplasmosis
Extra: https://onlinemeded.org/spa/obstetrics/prenatal-infections-2/acquire?ref=anki
Flashcard 147: Patients with patent ductus arteriosus can be predisposed to _____ infections
Answer: respiratory tract
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/acyanotic-congenital-heart-defects?index=6] https://onlinemeded.org?ref=anki
Flashcard 148: IPEX syndrome is due to a genetic deficiency of _____
Answer: FOXP3
Extra: https://onlinemeded.org/spa/immunology?ref=anki
Flashcard 149: Patients with Zellweger Syndrome often have _____ abnormalities
Answer: craniofacial
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/biochemistry/videos/cell-biology?index=5] https://onlinemeded.org?ref=anki
Flashcard 150: How does sickle cell anemia present in newborns? Why? _____
Answer: Asymptomatic (high HbF, low HbS)
Extra: Watch Sickle Cell Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-normocytic-and-macrocytic-anemias-sickle-cell-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=4] https://onlinemeded.org/spa/pediatrics/sickle-cell-disease/acquire?ref=anki Other:
Flashcard 151: What is the most common cause of gastric outlet obstruction in infants? _____
Answer: Pyloric stenosis (1:600)
Extra: Watch Congenital GI Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-gi/videos/medical-pathophysiology-gi-small-bowel-disorders-congenital-gi-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/visceral-anatomy?index=2] https://onlinemeded.org?ref=anki Atlas:
Flashcard 152: What is the most common type of Atrial Septal Defect (ASD)? _____
Answer: Ostium secundum (90%)
Extra: Watch Left to Right Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-left-to-right-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/acyanotic-congenital-heart-defects?index=4] https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 153: Where is a murmur due to patent ductus arteriosus best heard? _____
Answer: Left infraclavicular area
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/acyanotic-congenital-heart-defects?index=6] https://onlinemeded.org?ref=anki
Flashcard 154: _____ is a 22q11 deletion syndrome that presents with thymic aplasia, parathyroid aplasia and cardiac defects
Answer: DiGeorge Syndrome
Extra: https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki
Flashcard 155: Congenital varicella syndrome can result in _____
Answer: limb hypoplasia
Extra: Watch Varicella zoster virus (Herpesviridae) [https://dashboard.sketchy.com/study/medical/courses/medical-microbiology/units/medical-microbiology-viruses/videos/medical-microbiology-viruses-dna-viruses-varicella-zoster-virus-herpesviridae?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/infectious-disease?ref=anki
Flashcard 156: _____ in neonates and infants is known as cretinism
Answer: Hypothyroidism
Extra: * other causes include maternal hypothyroidism, thyroid agenesis, and dyshormonogenetic goiter Watch Hypothyroidism Overview & Hashimotos Thyroiditis [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-endocrine/videos/medical-pathophysiology-endocrine-thyroid-and-parathyroid-hypothyroidism-overview-and-hashimotos-thyroiditis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/endocrinology/thyroid/acquire?ref=anki
Flashcard 157: Which non-megaloblastic macrocytic anemia presents with rapid-onset anemia within the 1st year of life? _____
Answer: Diamond-Blackfan anemia (also known as congenital pure red cell aplasia or congenital hypoplastic anemia)
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/macrocytic-anemia?index=8] https://onlinemeded.org/spa/hematology-oncology/macrocytic-anemia/acquire?ref=anki Other:
Flashcard 158: β-thalassemia _____ is the most severe form of the disease; causes severe anemia a few months after birth
Answer: major (β0/β0)
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/microcytic-anemia?index=18] https://onlinemeded.org/spa/cirrhosis-iii-acute-decompensation?ref=anki Atlas: Other:
Flashcard 159: The port wine stain in Sturge-Weber syndrome classically arises in a CN _____ distribution
Answer: V1/V2
Extra: Watch Sturge Weber & Tuberous Sclerosis [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-neuro/videos/medical-pathophysiology-neuro-congenital-and-neurocutaneous-sturge-weber-and-tuberous-sclerosis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/neurology?ref=anki
Flashcard 160: What congenital heart disease may present with lower extremity claudication? _____
Answer: Coarctation of the aorta
Extra: Watch Left to Right Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-left-to-right-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/aortic-disease?index=10] https://onlinemeded.org/spa/cardiac?ref=anki
Flashcard 161: What is the most common cause of death in infants < 1 years old? _____
Answer: Congenital malformation
Extra: https://onlinemeded.org/spa/pediatrics?ref=anki
Flashcard 162: Hurler syndrome may present with developmental delay, airway _____, and hepatosplenomegaly
Answer: obstruction
Extra: https://onlinemeded.org/spa/metabolism?ref=anki
Flashcard 163: A Barlow Maneuver is positive if the hip dislocates _____ when pressure is applied to adducted and flexed hips
Answer: posteriorly
Extra: https://onlinemeded.org?ref=anki
Flashcard 164: Erb palsy is commonly caused by: - _____ on neck during _____ (in infants) - trauma (in adults)
Answer: lateral traction
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gross-anatomy/videos/axilla?index=6] https://onlinemeded.org?ref=anki
Flashcard 165: In Potter sequence, compression of the developing fetus results in limb _____
Answer: deformities
Extra: Watch Congenital & Cystic Kidney Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-congenital-and-chronic-kidney-disease-congenital-and-cystic-kidney-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch Polyhydramnios & Oligohydramnios [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-congenital-and-chronic-kidney-disease-congenital-and-cystic-kidney-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/nephrology/videos/anatomy-and-embryology?index=4] https://onlinemeded.org/spa/nephrology?ref=anki
Flashcard 166: The 5 T's of Right-to-Left Shunts: 1. _____ 2. Transposition 3. Tricuspid atresia 4. Tetralogy of Fallot 5. TAPVR
Answer: Truncus Arteriosus
Extra: Watch Right to Left Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-right-to-left-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/cyanotic-congenital-heart-defects?index=2] https://onlinemeded.org/spa/cardiac/cyanotic-congenital-heart-disease/acquire?ref=anki
Flashcard 167: _____ may be administered to patients with D-transposition of great vessels to maintain a PDA until definitive surgical repair is performed
Answer: PGE
Extra: Watch Right to Left Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-right-to-left-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/cyanotic-congenital-heart-defects?index=4] https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 168: The most common cause of cretinism in the U.S. is _____
Answer: thyroid dysgenesis
Extra: Watch Hypothyroidism Overview & Hashimotos Thyroiditis [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-endocrine/videos/medical-pathophysiology-endocrine-thyroid-and-parathyroid-hypothyroidism-overview-and-hashimotos-thyroiditis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/embryology/videos/embryonic-period-weeks-3-8?index=6] https://onlinemeded.org/spa/endocrinology/thyroid/acquire?ref=anki
Flashcard 169: Patients with Zellweger Syndrome present with a profound _____, seizures, and hepatomegaly
Answer: hypotonia
Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/biochemistry/videos/cell-biology?index=5] https://onlinemeded.org?ref=anki
Flashcard 170: Does congenital hypothyroidism present with muscular hemihypertrophy? _____
Answer: No
Extra: https://onlinemeded.org?ref=anki
Flashcard 171: Tetralogy of fallot is characterized by a(n) _____, _____, _____, and _____
Answer: pulmonary artery stenosis
Extra: https://onlinemeded.org?ref=anki
Flashcard 172: Complications of cleft lip/palate include recurrent _____, hearing problems, speech defects, and feeding difficulties (FTT)
Answer: otitis media
Extra: https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 173: Uncorrected left-to-right shunting leads to _____ hypertension, causing reversal of the shunt (right to left), causing late _____
Answer: pulmonary
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 174: What is tx of meconium ileus? _____
Answer: Water-soluble Gastrografin enema to help breakdown obstruction
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 175: What complication of shoulder dystocia manifests as a "Waiter's tip" with an impaired biceps/moro reflex in a newborn? _____
Answer: Erb-Duchenne palsy D/t upper trunk injury involving C5 and C6
Extra: https://onlinemeded.org/spa/obgyn?ref=anki
Flashcard 176: What is the treatment for Transposition of the Great Vessels without a VSD? _____
Answer: Prostaglandin E1; Ballon atrial septostomy (BAS)
Extra: https://onlinemeded.org/spa/surgery-subspecialty/ct-surgery/acquire?ref=anki
Flashcard 177: Child presents with an intellectual disability, seizures, "happy puppet" with laughing, and fascination with water. Disease and cause? _____
Answer: Angelman; maternal chrom. 15 deletion
Extra: https://onlinemeded.org?ref=anki
Flashcard 178: What is postnatal treatment for congenital diaphragmatic hernia? (3) _____
Answer: Intubation and mechanical ventilation Gastric decompression Surgical repair (after 3-4 days) Surfactant administration for preemies
Extra: https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 179: - Cyanosis with feeds → pinking up with crying - Childhood snoring with partial obstruction _____
Answer: Choanal atresia
Extra: https://onlinemeded.org/spa/infectious-disease?ref=anki
Flashcard 180: Do umbilical hernias typically require surgical intervention? _____
Answer: No (most close spontaneously before age 5)
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 181: Young boy presents with intellectual disabilities, dystonia, gout, and self-mutilating behavior: _____
Answer: Lesch-Nyhan syndrome
Extra: https://onlinemeded.org?ref=anki
Flashcard 182: Can patients with duodenal atresia present with yellow, seedy stools? _____
Answer: No
Extra: https://onlinemeded.org?ref=anki
Flashcard 183: Large ventricular septal defects may present with a harsh, blowing _____ murmur with thrill; and can lead to endocarditis, progressive aortic regurgitation, heart failure, pulmonary HTN, and Eisenmenger syndrome
Answer: holosystolic
Extra: https://onlinemeded.org/spa/cardiology/valvular-disease/acquire?ref=anki
Flashcard 184: Term neonate with midline mucosal structure protruding from the abdominal wall below the umbilicus; red, moist, and wet? _____
Answer: Bladder exstrophy
Extra: https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 185: _____ should be suspected in a patient with cryptorchidism and an acute abdomen
Answer: Intrabdominal testicular torsion
Extra: https://onlinemeded.org/spa/renal?ref=anki
Flashcard 186: Potter sequence may be caused by _____ (e.g. posterior urethral valves)
Answer: obstructive uropathy
Extra: https://onlinemeded.org/spa/renal?ref=anki
Flashcard 187: Intestinal (jejunoileal) atresia is often due to maternal _____ use and causes _____, leading to necrosis/resorption of the fetal intestine
Answer: cocaine/tobacco
Extra: https://onlinemeded.org/spa/pediatrics/baby-emesis/acquire?ref=anki
Flashcard 188: The pediatric CXR below shows a patient with _____
Answer: congenital diaphragmatic hernia
Extra: https://onlinemeded.org?ref=anki
Flashcard 189: Tetralogy of fallot presents with _____, Tet spells, and a(n) _____ murmur at the _____. CXR classically shows _____, although echocardiogram is the tool of choice
Answer: cyanosis
Extra: https://onlinemeded.org/spa/cardiology/valvular-disease/acquire?ref=anki
Flashcard 190: Prior to pyloromyotomy, patients with pyloric stenosis should receive _____ to decrease the risk of post-operative apnea
Answer: IV hydration and electrolytes
Extra: https://onlinemeded.org/spa/pediatrics/baby-emesis/acquire?ref=anki
Flashcard 191: The initial step in the evaluation of biliary atresia is a(n) _____
Answer: abdominal ultrasound
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 192: Posterior urethral valves or vesicoureteral reflux = _____
Answer: voiding cystourethogram
Extra: https://onlinemeded.org?ref=anki
Flashcard 193: Infants born to mothers with Graves' disease can rarely develop neonatal thyrotoxicosis due to the transplacental passage of maternal _____
Answer: stimulatory TSH-receptor antibodies (TRAb)
Extra: https://onlinemeded.org?ref=anki
Flashcard 194: ↓ Cortisol, ↓ Na+ and ↑ K+ in infant is suggestive of _____
Answer: 21-hydroxylase deficiency (CAH)
Extra: https://onlinemeded.org/spa/gynecology?ref=anki
Flashcard 195: _____ results in a 46 XY with: - Male internal genitalia - Ambiguous external genitalia (virilization at puberty)
Answer: 5α-reductase deficiency
Extra: https://onlinemeded.org?ref=anki
Flashcard 196: _____ is a syndrome that involves Wilms tumor (nephroblastoma), aniridia, genitourinary abnormalities and mental retardation
Answer: WAGR syndrome
Extra: https://onlinemeded.org?ref=anki
Flashcard 197: 2 month hx of increasing weakness, difficulty feeding, tongue fasciculations and hypotonia = _____
Answer: progressive infantile spinal muscular atrophy
Extra: https://onlinemeded.org?ref=anki
Flashcard 198: _____ is a cyanotic congenital heart defect that presents with right ventricular impulses, a single S2 sound, and a systolic ejection murmur at the left upper sternal border
Answer: Tetralogy of Fallot (ToF)
Extra: * due to pulmonary valve stenosis Watch Right to Left Shunts [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-congenital-heart-disease-right-to-left-shunts?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/cardiac?ref=anki
Flashcard 199: Fanconi anemia = _____ Diamond Blackfan = _____
Answer: pancytopenia
Extra: https://onlinemeded.org?ref=anki
Flashcard 200: 4 day old baby with total bilirubin level 21 → _____
Answer: phototherapy
Extra: https://onlinemeded.org?ref=anki
Flashcard 201: Transposition of the great vessels is a cyanotic heart disease _____
Answer: T
Extra: https://onlinemeded.org/spa/surgery-subspecialty/ct-surgery/acquire?ref=anki
Flashcard 202: Tetralogy of Fallot is a congenital heart disease that is characterized by: 1. _____ 2. _____ 3. _____ 4. _____
Answer: Pulmonary stenosis
Extra: https://onlinemeded.org?ref=anki Treat with surgery Congenital heart defects only account for 2% of heart disease in adults. They are low-yield.
Flashcard 203: Does slipped-capital-femoral epiphysis present with fever? _____
Answer: No
Extra: https://onlinemeded.org/spa/pediatrics/orthopedics/acquire?ref=anki
Flashcard 204: What is the most common site of metastatic spread of a Wilms tumor? _____
Answer: Lungs
Extra: https://onlinemeded.org/spa/renal?ref=anki
Flashcard 205: What is the likely diagnosis in a cyanotic newborn with truncus arteriosus and an absent thymic shadow on X-ray? _____
Answer: DiGeorge syndrome
Extra: https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 206: What is the likely diagnosis in an infant that presents with projectile, non-bilious emesis immediately after eating and an olive-shaped mass in the abdomen? _____
Answer: Pyloric stenosis
Extra: https://onlinemeded.org/spa/pediatrics/baby-emesis/acquire?ref=anki May be visualized on ultrasound as an enlongated, thickened pylorus (donut sign)
Flashcard 207: What is the most common cause of inherited intellectual disability? _____
Answer: Fragile X syndrome
Extra: https://onlinemeded.org/spa/psychiatry/peds-neurodevelopmental/acquire?ref=anki
Flashcard 208: What congenital heart defect presents with a holosystolic murmur at left lower sternal border and a mid-diastolic murmur at apex +/- systolic thrill? _____
Answer: Ventricular septal defect
Extra: https://onlinemeded.org?ref=anki
Flashcard 209: What is 1st step in working up bilious vomiting in a neonate? _____
Answer: Babygram (X-ray of entire body)
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 210: What are the five Ps of congenital hypothyroidism:? _____
Answer: Poor brain development (mental retardation) Protuberant tongue (macroglossia) and anterior fontanelle Pot belly and constipation Protruding umbilicus (hernia) Puffy faced
Extra: https://onlinemeded.org?ref=anki
Flashcard 211: Most communicating hydroceles require surgical intervention _____
Answer: F
Extra: https://onlinemeded.org?ref=anki
Flashcard 212: Tay-Sachs disease may be differentiated from Niemann-Pick disease by presence of _____ and the _____ of hepatosplenomegaly
Answer: hyperreflexia
Extra: https://onlinemeded.org?ref=anki
Flashcard 213: What is the likely diagnosis in a newborn with microcephaly, cleft lip/palate, and distal phalange hypoplasia? _____
Answer: Fetal hydantoin syndrome
Extra: https://onlinemeded.org/spa/obgyn?ref=anki
Flashcard 214: What is the likely diagnosis in an infant that presents with macrosomia, macroglossia, umbilical hernia, hemihyperplasia, and hypoglycemia? _____
Answer: Beckwith-Wiedemann syndrome
Extra: https://onlinemeded.org?ref=anki
Flashcard 215: Baby with high conjugated bilirubin is managed with _____
Answer: RUQ U/S or HIDA
Extra: https://onlinemeded.org/spa/pediatrics/neonatal-jaundice/acquire?ref=anki
Flashcard 216: Which major autosomal trisomy is associated with hypothyroidism? _____
Answer: Down syndrome (Trisomy 21)
Extra: Watch Down Syndrome [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trisomy-diseases-downs-syndrome?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 217: What childhood malignancy typically manifests as a smooth, non-tender abdominal mass that does not cross the midline and is associated with hematuria/HTN? _____
Answer: Wilms tumor (nephroblastoma)
Extra: https://onlinemeded.org/spa/pediatrics/urology/acquire?ref=anki
Flashcard 218: What is the likely diagnosis in an African American infant that presents with symmetric swelling/tenderness of the bilateral hands and feet? _____
Answer: Dactylitis (secondary to sickle cell disease)
Extra: https://onlinemeded.org?ref=anki
Flashcard 219: What is the likely diagnosis in a child that presents with short stature, hypoplastic thumbs, abnormal skin pigmentation and aplastic, macrocytic anemia? _____
Answer: Fanconi anemia
Extra: https://onlinemeded.org?ref=anki
Flashcard 220: Beckwith-Wiedemann syndrome = _____glycemia
Answer: hypo
Extra: https://onlinemeded.org?ref=anki
Flashcard 221: _____ is an ear pathology that presents in children with retracted tympanic membrane, tinnitus, and popping with swallowing
Answer: Eustachian tube dysfunction
Extra: https://onlinemeded.org?ref=anki
Flashcard 222: Cyanosis developing soon after birth that does not correct with oxygen = _____
Answer: ductal-dependent congenital heart defect
Extra: https://onlinemeded.org?ref=anki
Flashcard 223: Does cerebral palsy or spinal dysraphism usually present at birth? _____
Answer: Spinal dysraphism
Extra: https://onlinemeded.org?ref=anki
Flashcard 224: What is the likely diagnosis in a newborn with microcephaly, hirsutism, phalanx/nail hypoplasia, and a cleft palate? _____
Answer: Fetal hydantoin syndrome
Extra: https://onlinemeded.org/spa/obgyn?ref=anki
Flashcard 225: - Duodenal atresia - Annular pancreas - Malrotation/volvulus - Intestinal atresia → _____ - Pyloric stenosis - Tracheoesophageal fistula → _____
Answer: Bilious vomit
Extra: https://onlinemeded.org/spa/pediatrics/baby-emesis/acquire?ref=anki
Flashcard 226: Beckwith-Wiedemann syndrome is associated with polyhydramnios _____
Answer: T
Extra: https://onlinemeded.org/spa/obgyn?ref=anki
Flashcard 227: What is the treatment for umbilical hernias in children? _____
Answer: Monitor for spontaneous resolution by age 5
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 228: Neuroblastoma arising in the cervical paravertebral sympathetic chain can present as isolated _____ syndrome
Answer: Horner
Extra: https://onlinemeded.org?ref=anki
Flashcard 229: _____ is associated with supravalvular aortic stenosis
Answer: Williams syndrome
Extra: https://onlinemeded.org?ref=anki
Flashcard 230: Rapid Diagnosis Omphalocele, rocker-bottom feet/hammer toe, microcephaly, clenched hand: _____
Answer: Edwards (Trisomy 18)
Extra: Watch Edwards & Patau Syndromes [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trisomy-diseases-edwards-and-patau-syndromes?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org?ref=anki
Flashcard 231: What is seen on CMP in baby with pyloric stenosis? (3) _____
Answer: Hypochloremic, hypokalemic, metabolic alkalosis
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 232: What complication of shoulder dystocia manifests as a "claw hand", an impaired grasp reflex, and Horner syndrome in a newborn? _____
Answer: Klumpke palsy D/t lower trunk injury involving C8 and T1
Extra: https://onlinemeded.org/spa/obgyn?ref=anki
Flashcard 233: What heart abnormalities are associated with Turner syndrome? _____
Answer: Bicuspid aortic valve (most common) Coarctation of the aorta
Extra: https://onlinemeded.org/spa/gynecology/primary-amenorrhea/acquire?ref=anki
Flashcard 234: Infant with hypotonia, cardiomegaly and hepatomegaly is most likely _____
Answer: Pompe disease (type II)
Extra: https://onlinemeded.org?ref=anki
Flashcard 235: Cystic fibrosis has very similar respiratory tract features as what other disease? _____
Answer: Primary Ciliary Dyskinesia (dec. mucociliary clearance)
Extra: https://onlinemeded.org?ref=anki
Flashcard 236: What is dx in baby who presents with sudden projectile vomiting after feeds, olive-shaped mass, and visible peristaltic waves? _____
Answer: Pyloric stenosis
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 237: Aplastic anemia and short stature / physical abnormalities is suggestive of _____
Answer: Fanconi anemia
Extra: https://onlinemeded.org?ref=anki
Flashcard 238: Term neonate having difficulty with first feeds; coughing and spitting up any feeds, gurgling bubbles between attempts? _____
Answer: TE fistula
Extra: https://onlinemeded.org/spa/pediatrics/failure-to-pass-meconium/acquire?ref=anki
Flashcard 239: What genetic pathology is characterized by hypotonia, insatiable appetite → obesity, intellectual disability, and hypogonadism? _____
Answer: Prader-Willi syndrome
Extra: https://onlinemeded.org?ref=anki
Flashcard 240: _____ is a right of midline defect without a membrane and is more susceptible to twisting and infection
Answer: Gastroschisis
Extra: https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 241: How does a baby with TE fistula present? _____
Answer: Gurgling, coughing, bubbling
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 242: Child passes a large bloody bowel movement is suggestive of _____
Answer: Meckel diverticulum
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 243: The features of a chromosome 22q11 microdeletion may be remembered with the mnemonic "CATCH 22": C: _____ A: Abnormal facies T: Thymic aplasia C: Cardiac abnormalities (truncus arteriosus, tetralogy of Fallot) H: Hypocalcemia (lack of parathyroids) 22: chromosome affected
Answer: Cleft palate
Extra: https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 244: _____ is a midline defect covered with membrane
Answer: Omphalocele
Extra: https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 245: What is the next step in management for a 12-month-old girl with a confirmed E. coli UTI that is resolving after initiation of antibiotics? _____
Answer: Renal and bladder ultrasound
Extra: https://onlinemeded.org/spa/pediatrics/urology/acquire?ref=anki
Flashcard 246: What is the likely diagnosis in a child that presents with persistent ear discharge and conductive hearing loss, despite antibiotic treatment, with granulation tissue and skin debris visible on otoscopic exam? _____
Answer: Cholesteatoma
Extra: https://onlinemeded.org?ref=anki
Flashcard 247: Nonclassic congenital adrenal hyperplasia is a form of _____ precocious puberty
Answer: peripheral
Extra: https://onlinemeded.org/spa/gynecology?ref=anki
Flashcard 248: What is the typical prognosis for newborns with Erb-Duchenne or Klumpke palsy secondary to shoulder dystocia? _____
Answer: Spontaneous resolution within 3 months (80%)
Extra: https://onlinemeded.org/spa/obgyn?ref=anki
Flashcard 249: Drooling, choking, and vomiting with the first feeding is suggestive of _____
Answer: Esophageal atresia with TEF
Extra: https://onlinemeded.org?ref=anki
Flashcard 250: What is the next step in management for a newborn with bilious emesis and gasless abdomen on X-ray? _____
Answer: Upper GI series (e.g. barium swallow)
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 251: What is the most likely diagnosis in a 4-month old boy who presents with seizures? He was born at home. Physical exam shows light hair and blue eyes. His urine is noticable for a "musty odor". _____
Answer: Phenylketonuria (PKU)
Extra: https://onlinemeded.org?ref=anki
Flashcard 252: Term male neonate with projectile vomiting; alkalotic with visible peristalsis? _____
Answer: Pyloric stenosis
Extra: https://onlinemeded.org/spa/pediatrics/failure-to-pass-meconium/acquire?ref=anki
Flashcard 253: Thalassemia, when major, is treated with _____ and prophylactic deferoxamine to prevent _____
Answer: blood transfusions
Extra: https://onlinemeded.org/spa/hematology-oncology/microcytic-anemia/acquire?ref=anki
Flashcard 254: _____ is an appropriate treatment for children < 6 months with developmental dysplasia of the hip
Answer: Rigid bracing (of the hip in abduction)
Extra: https://onlinemeded.org/spa/pediatrics/orthopedics/acquire?ref=anki
Flashcard 255: Laryngomalacia presents with inspiratory stridor that improves while _____, whereas vascular ring presents with biphasic stridor that improves while _____
Answer: prone
Extra: https://onlinemeded.org?ref=anki
Flashcard 256: Which major autosomal trisomy is associated with hypotonia leading to a weak suck and protruding tongue? _____
Answer: Down Syndrome (Trisomy 21)
Extra: Watch Down Syndrome [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trisomy-diseases-downs-syndrome?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 257: Bottle feeding = _____ risk of pyloric stenosis
Answer: ↑
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 258: Bilious vomiting, abdominal distension and hematochzeia in an infant is suggestive of _____
Answer: midgut volvulus
Extra: https://onlinemeded.org?ref=anki
Flashcard 259: Esophageal atresia with TEF typically presents with drooling, choking, and _____ with the first feeding
Answer: vomiting
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 260: If you hear bowel sounds over the lungs and there's a scaphoid abdomen in a dyspneic baby think _____
Answer: congenital diaphragmatic hernia
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 261: When should cryptorchidism be surgically corrected with orchiopexy? _____
Answer: By 1 year
Extra: https://onlinemeded.org/spa/obgyn?ref=anki
Flashcard 262: Does congenital hypothyroidism present with hepatomegaly? _____
Answer: No
Extra: https://onlinemeded.org?ref=anki
Flashcard 263: Why are children with cyanotic congenital heart disease (e.g. tetralogy of Fallot) at an increased risk for brain abscess? _____
Answer: R → L shunting of venous blood allows bacteria to bypass the pulmonary circulation and hematogenously spread
Extra: https://onlinemeded.org?ref=anki
Flashcard 264: Some VSDs are asymptomatic at birth due to _____
Answer: ↑ pulmonary vascular resistance
Extra: https://onlinemeded.org?ref=anki
Flashcard 265: The features of a chromosome 22q11 microdeletion (DiGeorge Syndrome) may be remembered with the mnemonic "CATCH 22": C: _____ A: _____ T: _____ C: _____ H: _____ 22: chromosome affected
Answer: Cleft palate
Extra: https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki
Flashcard 266: What is the likely diagnosis in an infant that presents with failure to thrive, absent lymph nodes, and leukopenia with a history of Pneumocystis jirovecii and Candida infection? _____
Answer: SCID
Extra: https://onlinemeded.org?ref=anki
Flashcard 267: Is gastroschisis or omphalocele associated with more health concerns, ex. chromosomal abnormalities? _____
Answer: Omphalocele
Extra: https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 268: What is cause of meconium ileus? _____
Answer: Pancreatic insufficiency
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 269: Snuffles and Hutchinson (notched) teeth = _____
Answer: congenital syphilis
Extra: https://onlinemeded.org/spa/obstetrics/prenatal-infections-2/acquire?ref=anki
Flashcard 270: What are common causes of intestinal atresia? (2) _____
Answer: Vascular accident in utero, mom used coke
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 271: Could present as failure to pass meconium in a 2 day old, or as constipation in a 2 year old? _____
Answer: Hirschsprung disease
Extra: https://onlinemeded.org/spa/pediatrics/failure-to-pass-meconium/acquire?ref=anki
Flashcard 272: How does infant with intussusception present? _____
Answer: Knee-chest position w/ currant jelly diarrhea and sausage shaped mass in abdomen
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 273: The testicle _____ be pulled down to the scrotum in cryptorchidism
Answer: cannot
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 274: What do multiple air fluid levels on babygram during work-up of bilious vomiting indicate? _____
Answer: Intestinal atresia
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 275: What is tx of TE fistula? _____
Answer: Surgery; Look for VACTERL anomalies
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 276: Newborns usually have _____-axis deviation
Answer: right
Extra: https://onlinemeded.org?ref=anki
Flashcard 277: What is the biggest complication of having a diaphragmatic hernia for a baby? _____
Answer: Hypoplastic lung that requires intubation and ventilation for baby's survival
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 278: Scaphoid abdomen in a dyspneic baby and bowel sounds heard over the lungs is suggestive of _____
Answer: congenital diaphgramatic hernia
Extra: https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 279: Do you screen for congenital hypothyroidism? _____
Answer: Yes
Extra: https://onlinemeded.org?ref=anki
Flashcard 280: What is the likely diagnosis in a child that presents with bitemporal hemianopsia and diabetes insipidus with calcified pituitary mass on imaging? _____
Answer: Craniopharyngioma
Extra: https://onlinemeded.org?ref=anki
Flashcard 281: What will exam show in Hirschsprung's? _____ rectal tone
Answer: Increased
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 282: Is gastroschisis or omphalocele associated with more health concerns? Which one most commonly? _____
Answer: Omphalocele; Beckwith Wiedemann
Extra: https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 283: _____ is associated with ↑ risk of cystic hygromas (lymphangiomas)
Answer: Turner syndrome
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 284: What does a normal gas pattern distal to point of obstruction on babygram indicate? _____
Answer: Malrotation
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 285: Congenital diaphragmatic hernia is associated with lung _____
Answer: hypoplasia
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 286: Usually detected on prenatal screen, but also: - immigrant with limited healthcare - meconium ileus (first day of life) - recurrent pulmonary infections (older) - failure to thrive (loss of pancreatic exocrine function) - salty baby → _____
Answer: Cystic fibrosis
Extra: https://onlinemeded.org/spa/pediatrics/lower-airway/acquire?ref=anki
Flashcard 287: Fragile X Syndrome: _____ Repeats _____ gene repression due to hypermethylation _____ inheritance _____ _____
Answer: CGG
Extra: https://onlinemeded.org?ref=anki
Flashcard 288: Isolated horner syndrome and cervical paravertebral mass is suggestive of _____
Answer: neuroblastoma
Extra: https://onlinemeded.org?ref=anki
Flashcard 289: Does Beckwith-Wiedemann syndrome present with mid-face hypoplasia? _____
Answer: Yes
Extra: https://onlinemeded.org?ref=anki
Flashcard 290: What is the most common cause of hemoptysis in the pediatric population? _____
Answer: Cystic fibrosis-associated bronchiectasis
Extra: https://onlinemeded.org?ref=anki
Flashcard 291: Neonate with an NG tube coiling in the esophagus = _____
Answer: TE fistula
Extra: https://onlinemeded.org/spa/pediatrics/baby-emesis/acquire?ref=anki
Flashcard 292: Patients with VUR are at increased risk of developing ureter stenosis _____
Answer: F
Extra: https://onlinemeded.org?ref=anki
Flashcard 293: Congenital cardiac disease and maternal diabetes (before pregnancy) = _____
Answer: Transposition of the great vessels (TGV)
Extra: https://onlinemeded.org/spa/obstetrics/medical-disease/acquire?ref=anki
Flashcard 294: What kidney abnormality is associated with Turner syndrome? _____
Answer: Horseshoe kidney
Extra: https://onlinemeded.org/spa/gynecology/primary-amenorrhea/acquire?ref=anki
Flashcard 295: _____ syndrome is a disorder of sexual development that is associated with mitral valve prolapse
Answer: Klinefelter
Extra: https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 296: Turner Syndrome can be diagnosed with ↑ _____
Answer: LH and FSH
Extra: https://onlinemeded.org/spa/gynecology/primary-amenorrhea/acquire?ref=anki
Flashcard 297: What is the treatment of acute ischemic stroke in patients <18 years old with sickle cell disease? _____
Answer: Exchange transfusion therapy
Extra: https://onlinemeded.org?ref=anki
Flashcard 298: Telangiectasias and ↑ tumor risk is seen in _____
Answer: ataxia-telangiectasia
Extra: https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki
Flashcard 299: In addition to hip pain, patients with Slipped capital femoral epiphysis may present with _____ pain, inability to bear weight, and knee "_____"
Answer: knee
Extra: https://onlinemeded.org/spa/pediatrics/orthopedics/acquire?ref=anki
Flashcard 300: Which pediatric brain tumor is most commonly associated with raised intracranial pressure? _____
Answer: Medulloblastoma
Extra: https://onlinemeded.org?ref=anki
Flashcard 301: Intussusception = pain_____ Meckel = pain_____
Answer: ful
Extra: https://onlinemeded.org/spa/gastroenterology/gi-bleed/acquire?ref=anki
Flashcard 302: infant with biphasic stridor / wheezing / dysphagia improving with extension is suggestive of _____
Answer: vascular ring
Extra: https://onlinemeded.org?ref=anki
Flashcard 303: What is used to dx and treat intussusception? _____
Answer: Air enema
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 304: Hirschsprung disease is characterized by _____ ("squirt sign") leading to an empty rectum on digital rectal exam
Answer: explosive expulsion of feces
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 305: Does Beckwith-Wiedemann syndrome present with hepatomegaly? _____
Answer: Yes
Extra: https://onlinemeded.org?ref=anki
Flashcard 306: Esophageal atresia with TEF typically presents with excessive _____ at the mouth (drooling, choking), coughing spells/vomiting, and vomiting with the first feeding
Answer: secretions
Extra: https://onlinemeded.org/spa/surgery?ref=anki May be complicated by aspiration pneumonia due to gastric acid reflux into the trachea and lungs (crackles)
Flashcard 307: In < 2 yo children with a febrile UTI, what is the next best step in evaluating for anatomic abnormalities? _____
Answer: Renal and bladder US
Extra: https://onlinemeded.org/spa/renal?ref=anki
Flashcard 308: Abdominal mass that crosses the midline in a child is suggestive of _____
Answer: neuroblastoma
Extra: https://onlinemeded.org?ref=anki
Flashcard 309: Is gastroschisis associated with chromosomal abnormalities? _____
Answer: No
Extra: https://onlinemeded.org?ref=anki
Flashcard 310: Pyloric stenosis often presents with a palpable "_____-like" mass in the epigastric region of the abdomen
Answer: olive
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 311: What is the likely diagnosis in a well-appearing child that presents with a microcytic, hypochromic anemia with normal RBC count and RDW? _____
Answer: Thalassemia minor
Extra: https://onlinemeded.org/spa/hematology-oncology/microcytic-anemia/acquire?ref=anki
Flashcard 312: _____ involves the failed development of the thymus resulting in ↓↓ T cell maturation
Answer: DiGeorge syndrome
Extra: https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 313: _____ is a condition associated with ↑ risk of Hirschsprung disease
Answer: Down syndrome
Extra: https://onlinemeded.org/spa/pediatrics/failure-to-pass-meconium/acquire?ref=anki
Flashcard 314: Newborn with unconjugated bilirubin and high Hgb = _____
Answer: transfusion
Extra: https://onlinemeded.org/spa/pediatrics/neonatal-jaundice/acquire?ref=anki
Flashcard 315: What is the treatment for strabismus ("crossed eyes")? Congenital → _____ Acquired → patch _____ eye or glasses if a problem of refraction
Answer: surgery
Extra: https://onlinemeded.org/spa/pediatrics/ophthalmology/acquire?ref=anki
Flashcard 316: _____ = systolic ejection murmur at left upper sternal border and single S2
Answer: Tetralogy of Fallot
Extra: * due to pulmonary valve stenosis https://onlinemeded.org/spa/cardiac?ref=anki
Flashcard 317: Continuous machine-like murmur is most likely a(n) _____ [sound:39 SO - Patent Ductus Arteriosus.mp3]
Answer: PDA
Extra: https://onlinemeded.org/spa/surgery-subspecialty/ct-surgery/acquire?ref=anki
Flashcard 318: What hemoglobinopathy is screened as a newborn: _____
Answer: Sickle cell disease
Extra: https://onlinemeded.org?ref=anki
Flashcard 319: What cause of intellectual disability is associated with small palpebral fissures, smooth philtrum, and thin vermillion border? _____
Answer: Fetal alcohol syndrome
Extra: https://onlinemeded.org/spa/psychiatry/peds-neurodevelopmental/acquire?ref=anki
Flashcard 320: What is the likely diagnosis in a child that presents with pancreatic insufficiency, failure to thrive, and recurrent respiratory infections? _____
Answer: Cystic Fibrosis
Extra: https://onlinemeded.org/spa/pediatrics/lower-airway/acquire?ref=anki
Flashcard 321: What is the most common gastrointestinal congenital anomaly? _____
Answer: Meckel diverticulum
Extra: https://onlinemeded.org?ref=anki
Flashcard 322: What is the likely diagnosis and treatment in an infant that presents with ipsilateral head tilt and contralateral chin deviation with a neck mass that does not transilluminate on ultrasound? _____
Answer: Congenital muscular torticollis; stretching program (surgery at 1 year)
Extra: https://onlinemeded.org?ref=anki
Flashcard 323: What should be suspected in a neonate with abdominal distension, poor urine output, and respiratory distress? _____
Answer: Posterior urethral valves
Extra: https://onlinemeded.org?ref=anki
Flashcard 324: Patient presents with vascular birthmark (port-wine stain) of the face _____
Answer: Nevus flammeus
Extra: https://onlinemeded.org?ref=anki
Flashcard 325: Turner syndrome can have _____
Answer: melanocytic nevi
Extra: https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 326: What is the likely diagnosis in a newborn that presents with an enlarged tongue, umbilical hernia, and jaundice with high TSH and low free T4? _____
Answer: Congenital hypothyroidism
Extra: https://onlinemeded.org?ref=anki
Flashcard 327: Neonate with "double bubble" on CXR is _____
Answer: duodenal atresia
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 328: What is the likely diagnosis in a newborn that presents with cyanosis, a single loud S2 on auscultation (no murmur), and a narrow mediastinum on X-ray? _____
Answer: Transposition of the great vessels
Extra: https://onlinemeded.org?ref=anki
Flashcard 329: Double bubble sign, no distal air and Down's syndrome is suggestive of _____ Double bubble sign, no distal air and NO Down's syndrome is suggestive of _____
Answer: duodenal atresia
Extra: https://onlinemeded.org?ref=anki
Flashcard 330: Is treatment necessary for an infant with hydrocele? _____
Answer: No
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 331: Acute lymphoblastic leukemia is associated with _____ syndrome; usually arises after the age of 5 years
Answer: Down
Extra: https://onlinemeded.org/spa/hematology-oncology/leukemia/acquire?ref=anki
Flashcard 332: Newborns with Rh incompatibility typically have _____ at birth
Answer: severe anemia
Extra: https://onlinemeded.org?ref=anki
Flashcard 333: _____ is diagnostic & theraputic for an infant with meconium ileus
Answer: Gastrografin enema
Extra: https://onlinemeded.org/spa/pediatrics/failure-to-pass-meconium/acquire?ref=anki
Flashcard 334: D-transposition of the great vessels is associated with _____
Answer: maternal diabetes
Extra: https://onlinemeded.org/spa/surgery-subspecialty/ct-surgery/acquire?ref=anki
Flashcard 335: How will babies present with choanal atresia? _____
Answer: Pink up with crying (he/she uses mouth) and blue at rest (obligate nose-breathers)
Extra: https://onlinemeded.org/spa/pediatrics?ref=anki
Flashcard 336: Fragile X syndrome may present with _____ of joints
Answer: hypermobility
Extra: Watch Fragile X Syndrome [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trinucleotide-repeat-diseases-fragile-x-syndrome?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 337: _____ muscular dystrophy presents before 5 years of age _____ muscular dystrophy presents as a teenager
Answer: Duchenne
Extra: https://onlinemeded.org?ref=anki
Flashcard 338: Screening for congenital heart disease includes pre- and post-ductal _____
Answer: pulse oximetry
Extra: https://onlinemeded.org?ref=anki
Flashcard 339: Diagnosis of Tracheoesophageal fistula = _____
Answer: feeding tube cannot pass through esophagus
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 340: Which position commonly helps patients with Tetralogy of Fallot by increasing TPR? _____
Answer: Knee-Chest position
Extra: https://onlinemeded.org?ref=anki
Flashcard 341: What cause of bilious vomiting is characterized by meconium obstructing the rectosigmoid colon with a transition zone visualized on X-ray? _____
Answer: Hirschsprung disease
Extra: https://onlinemeded.org/spa/neurology?ref=anki
Flashcard 342: The babygram below shows a neonate with a(n) _____
Answer: congenital diaphragmatic hernia
Extra: https://onlinemeded.org?ref=anki
Flashcard 343: What childhood malignancy typically manifests as an asymptomatic, smooth, non-tender abdominal mass that does not cross the midline? _____
Answer: Wilms tumor (nephroblastoma)
Extra: https://onlinemeded.org/spa/pediatrics/urology/acquire?ref=anki
Flashcard 344: What is the likely diagnosis in a macrosomic, vacuum-delivered newborn with crepitus over the clavicle and asymmetric Moro reflex? _____
Answer: Clavicular fracture (secondary to shoulder dystocia)
Extra: https://onlinemeded.org?ref=anki
Flashcard 345: What is the likely diagnosis in a generally healthy newborn that presents with cyanosis that worsens with feeding and is relieved with crying despite a normal cardiac and respiratory exam? _____
Answer: Choanal atresia
Extra: https://onlinemeded.org/spa/pediatrics?ref=anki
Flashcard 346: For survival, hypoplastic left heart syndrome requires: _____ _____
Answer: ASD (or PFO)
Extra: https://onlinemeded.org?ref=anki
Flashcard 347: Edwards syndrome and holosystolic murmur at left sternal border is suggestive of _____
Answer: VSD
Extra: Watch Edwards & Patau Syndromes [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trisomy-diseases-edwards-and-patau-syndromes?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 348: Hirschsprung's disease presenting with constipation is evaluated with _____ showing increased tone
Answer: anorectal manometry
Extra: https://onlinemeded.org/spa/pediatrics/failure-to-pass-meconium/acquire?ref=anki
Flashcard 349: What is the etiology of neonatal hyperthyroidism? _____
Answer: Transplacental passage of maternal TSH receptor antibody (TRAbs)
Extra: https://onlinemeded.org?ref=anki
Flashcard 350: Fractures @ young age, blue sclera and hearing loss is suggestive of _____
Answer: osteogenesis imperfecta
Extra: https://onlinemeded.org/spa/musculoskeletal?ref=anki
Flashcard 351: What is the likely diagnosis in a stillborn fetus with multiple limb fractures and a hypoplastic thoracic cavity? _____
Answer: Type II Osteogenesis Imperfecta
Extra: https://onlinemeded.org/spa/obgyn?ref=anki
Flashcard 352: Developmental dysplasia of the hip (DDH) is managed with _____
Answer: Harness
Extra: https://onlinemeded.org/spa/pediatrics/orthopedics/acquire?ref=anki
Flashcard 353: A full term neonate presents with severe respiratory distress and absent breath sounds with a scaphoid abdomen. What is likely occurring? _____
Answer: Congenital diaphragmatic hernia
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 354: What is the most common presentation of Meckel diverticulum in a toddler? _____
Answer: Painless hematochezia
Extra: https://onlinemeded.org/spa/gastroenterology/gi-bleed/acquire?ref=anki
Flashcard 355: Turner syndrome can affect the back, leading to _____
Answer: scoliosis
Extra: https://onlinemeded.org/spa/genetics?ref=anki
Flashcard 356: _____ PDAs may present with: widened pulse pressure and bounding pulses failure to thrive recurrent respiratory tract infections
Answer: Large
Extra: https://onlinemeded.org?ref=anki
Flashcard 357: What congenital heart defect presents with a harsh systolic ejection murmur at the left upper sternal border and single S2? _____
Answer: Tetralogy of Fallot
Extra: https://onlinemeded.org?ref=anki
Flashcard 358: What is Sudden Infant Death Syndrome (SIDS)? _____
Answer: Death of an infant without apparent reason based on the autopsy or during review of the scene
Extra: https://onlinemeded.org/spa/pediatrics?ref=anki
Flashcard 359: What viral TORCH infection can present with microcephaly, ventriculomegaly and periventricular calcifications in the brain? _____
Answer: CMV
Extra: https://onlinemeded.org?ref=anki
Flashcard 360: In achondroplasia, narrowing of the _____ may cause muscular hypotonia, apnea, or sudden infant death
Answer: foramen magnum
Extra: https://onlinemeded.org?ref=anki
Flashcard 361: All pts with imperforate anus need eval for _____
Answer: VACTERL
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 362: Leukocoria (white reflex) and strabismus is suggestive of _____
Answer: retinoblastoma
Extra: https://onlinemeded.org?ref=anki
Flashcard 363: Choanal atresia is associated with CHARGE syndrome: _____
Answer: Coloboma Heart defects Atresia choanae (choanal atresia) Retardation of growth Genital abnormalities Ear abnormalities
Extra: https://onlinemeded.org/spa/pediatrics?ref=anki
Flashcard 364: Phenylketonuria screening should be done at what age: _____
Answer: Newborn screening
Extra: https://onlinemeded.org?ref=anki
Flashcard 365: Child with orange plaque on scalp (hairless) or face is a(n) _____ with _____
Answer: nevus sebaceous
Extra: https://onlinemeded.org?ref=anki
Flashcard 366: What is the most common cause of urinary tract obstruction in newborn boys? _____
Answer: Posterior urethral valves
Extra: https://onlinemeded.org/spa/pediatrics/urology/acquire?ref=anki
Flashcard 367: ↑ FSH with absent breast development and no pubic hair is managed with _____
Answer: karyotype
Extra: https://onlinemeded.org/spa/gynecology/primary-amenorrhea/acquire?ref=anki
Flashcard 368: A continuous machinery murmur best heard over the left interscapular area is indicative of _____
Answer: coarctation of the aorta
Extra: https://onlinemeded.org?ref=anki
Flashcard 369: What is the treatment of transposition of the great vessels (TGV)? _____
Answer: Prostaglandins (to maintain the PDA) Surgery
Extra: https://onlinemeded.org/spa/surgery-subspecialty/ct-surgery/acquire?ref=anki
Flashcard 370: Turner syndrome increases risk of what two cardiovascular conditions? _____
Answer: Bicuspid aortic valve Coarctation of aorta (infantile)
Extra: https://onlinemeded.org/spa/gynecology/primary-amenorrhea/acquire?ref=anki
Flashcard 371: Severe microcephaly with thin cerebral corticies and multiple intracranial calcifications is suggestive of _____
Answer: congenital Zika syndrome
Extra: https://onlinemeded.org/spa/obgyn?ref=anki
Flashcard 372: Patients with Tetralogy of Fallot may _____ in response to cyanotic spells, which decreases right-to-left shunting by increasing systemic vascular resistance (SVR)
Answer: squat
Extra: https://onlinemeded.org/spa/surgery-subspecialty/ct-surgery/acquire?ref=anki
Flashcard 373: Newborn w/ hypospadias = _____
Answer: karyotype analysis
Extra: https://onlinemeded.org?ref=anki
Flashcard 374: Baby is born w/ respiratory distress w/ excess drooling → _____
Answer: tracheoesophageal fistula
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 375: Does congenital hypothyroidism present with mid-face hypoplasia? _____
Answer: No
Extra: https://onlinemeded.org?ref=anki
Flashcard 376: Does Beckwith-Wiedemann syndrome present with muscular hemihypertrophy? _____
Answer: Yes
Extra: https://onlinemeded.org?ref=anki
Flashcard 377: Infant with no thymus or tonsils = _____
Answer: SCID
Extra: https://onlinemeded.org/spa/immunology?ref=anki
Flashcard 378: Double bubble sign and NORMAL distal gas pattern = _____
Answer: malrotation
Extra: https://onlinemeded.org/spa/pediatrics/baby-emesis/acquire?ref=anki
Flashcard 379: What is the treatment for tricuspid atresia? _____
Answer: Prostaglandin E1; surgery
Extra: https://onlinemeded.org?ref=anki
Flashcard 380: Rapid Diagnosis Triphalangeal thumb, macrocytic anemia, reticulocytopenia, normal platelets and WBC counts: _____
Answer: Diamond-Blackfan anemia
Extra: https://onlinemeded.org?ref=anki
Flashcard 381: Coarctation of the aorta presents with HTN in _____ extremities and hypotension in _____ extremities; a(n) _____ murmur heard best _____; and _____ on CXR. Treat with surgical decompression
Answer: upper
Extra: https://onlinemeded.org/spa/cardiology/valvular-disease/acquire?ref=anki
Flashcard 382: Laryngomalacia presents with _____
Answer: inspiratory stridor
Extra: https://onlinemeded.org?ref=anki
Flashcard 383: Louder VSD = _____ prognosis
Answer: better
Extra: https://onlinemeded.org?ref=anki
Flashcard 384: Prior to dental procedures, antibiotic prophylaxis should be given if the patient has a pediatric history of congenital _____
Answer: heart disease
Extra: https://onlinemeded.org?ref=anki
Flashcard 385: Dorsally-hooded foreskin = _____
Answer: hypospadias
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 386: What is the effect of maternal familial hypocalciuric hypercalcemia on the neonatal calcium? _____
Answer: Decreased
Extra: https://onlinemeded.org/spa/nephrology/calcium/acquire?ref=anki
Flashcard 387: Are calcifications common in Wilms tumor or neuroblastoma? _____
Answer: Neuroblastoma
Extra: https://onlinemeded.org?ref=anki
Flashcard 388: What is the likely diagnosis in a young child that presents with failure to thrive and easy fatigability with a grade II holosystolic murmur best heard over the left sternal border with a diastolic rumble over the cardiac apex? There is also a loud P2. _____
Answer: Large ventricular septal defect (VSD)
Extra: https://onlinemeded.org/spa/pediatrics/well-child/acquire?ref=anki
Flashcard 389: Esophageal atresia is managed with _____
Answer: insert NG tube
Extra: https://onlinemeded.org?ref=anki
Flashcard 390: What will KUB show in Hirschsprung's? _____
Answer: dilated colon (normal part) and normal distal colon (abnormal part)
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 391: Pediatric patient after blunt abdominal trauma with epigastric pain and vomiting 24-36 hours after injury is suggestive of _____
Answer: duodenal hematoma
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 392: Clinical Presentation Male child, recurrent infections after 6 months, no mature B cells _____
Answer: Bruton disease (X-linked agammaglobulinemia)
Extra: https://onlinemeded.org/spa/immunology?ref=anki
Flashcard 393: _____[sound:39 SO - Patent Ductus Arteriosus.mp3]
Answer: PDA
Extra: https://onlinemeded.org?ref=anki
Flashcard 394: Laryngomalacia improves in the _____
Answer: prone
Extra: https://onlinemeded.org?ref=anki
Flashcard 395: Blue-dot sign is seen in _____
Answer: appendix testes torsion
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 396: - Systolic - Grade 1-2/6 - Decreases with standing/valsalva _____ murmur in a child
Answer: Benign
Extra: https://onlinemeded.org?ref=anki
Flashcard 397: Pyloric stenosis typically presents with _____, projectile vomiting (bilious or nonbilious)
Answer: nonbilious
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 398: Bilious emesis → insert NG tube → _____
Answer: abdominal X-ray
Extra: https://onlinemeded.org?ref=anki
Flashcard 399: When does pyloric stenosis typically present? _____
Answer: 3-6 weeks
Extra: https://onlinemeded.org?ref=anki
Flashcard 400: What are the two most common causes of death among patients with spinal muscular atrophy (SMA)? _____
Answer: Respiratory insufficiency (d/t respiratory muscle weakness) Aspiration pneumonia (d/t bulbar weakness)
Extra: https://onlinemeded.org?ref=anki
Flashcard 401: Neonate with polyhydramnios in utero, now bilious emesis; distended stomach and proximal duodenum with no distal air on X-ray? What is on the ddx? _____
Answer: Duodenal atresia Annular pancreas
Extra: https://onlinemeded.org/spa/pediatrics/baby-emesis/acquire?ref=anki
Flashcard 402: Macrocephaly, tense fontanelle, and a positive sunset eye sign are suggestive of _____
Answer: hydrocephalus
Extra: https://onlinemeded.org?ref=anki
Flashcard 403: What does "double-bubble" sign on babygram indicate? _____
Answer: Duodenal atresia, annular pancreas, or malrotation
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 404: Acute megakaryoblastic leukemia is associated with _____ syndrome; usually arises before the age of 5
Answer: Down
Extra: https://onlinemeded.org/spa/hematology-oncology/leukemia/acquire?ref=anki
Flashcard 405: What would you normally see in a patient with low implantation of a ureter? In what gender? _____
Answer: Wet with urine all the time; little girls
Extra: https://onlinemeded.org/spa/pediatrics/urology/acquire?ref=anki
Flashcard 406: What is the most common cause of meconium illeus? _____
Answer: Cystic Fibrosis
Extra: https://onlinemeded.org/spa/pediatrics/lower-airway/acquire?ref=anki
Flashcard 407: Infants of diabetic mothers are at increased risk of _____ malformations, such as cardiac and CNS, renal, and limb deformities
Answer: congenital
Extra: https://onlinemeded.org/spa/obgyn?ref=anki
Flashcard 408: Rapid Diagnosis Down Syndrome patient with back pain, ataxia, incontinence, and quadriplegia _____
Answer: Atlantoaxial instability (excessive mobility between C1 and C2 causing spinal cord compression)
Extra: https://onlinemeded.org?ref=anki
Flashcard 409: What chromosomal abnormality is associated with holoprosencephaly/microcephaly, intellectual disability, cleft lip/palate, and small eyes? _____
Answer: Trisomy 13 (Patau syndrome)
Extra: https://onlinemeded.org?ref=anki
Flashcard 410: Ductal-dependent congenital heart diseases require _____ until surgery can be performed
Answer: PGE1
Extra: https://onlinemeded.org?ref=anki
Flashcard 411: What is the next step in management for a newborn with bilious emesis and dilated loops of bowel on X-ray? _____
Answer: Contrast enema
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 412: Inside the body: (1) hamartomas (2) subependymal nodules Outside the body: (1) angiofibromas (on face) (2) ash-leaf spots (anywhere on skin) (3) shagreen patches (common on low back) = _____
Answer: Tuberous sclerosis
Extra: https://onlinemeded.org/spa/dermatology/hypopigmentation/acquire?ref=anki
Flashcard 413: _____ = typically seen in children (genetic)
Answer: Cystine stones
Extra: https://onlinemeded.org/spa/nephrology/kidney-stones/acquire?ref=anki
Flashcard 414: Testes that have not descended by _____ are unlikely to descend and require surgical intervention
Answer: 6 months
Extra: https://onlinemeded.org/spa/surgery?ref=anki
Flashcard 415: Neonate with extra-abdominal intestines; to the right of the umbilicus and not contained in a membrane? _____
Answer: Gastroschisis
Extra: https://onlinemeded.org/spa/pediatrics/congenital-defects/acquire?ref=anki
Flashcard 416: Gargoylism and corneal clouding is suggestive of _____
Answer: Hurler syndrome
Extra: https://onlinemeded.org?ref=anki
Flashcard 417: A 6 y/o comes to the office for evaluation of short stature. -Physical exam: height 3 standard deviations below the mean for her age. -Other findings include: Low set ears, high arched palate, webbed neck, & cubitus valgus. -Chromosomal analysis: 45, XO karyotype. -Patient: started on a medication to improve growth & normalize her height. -Which intracellular pathway is stimulated by the medication used in this patient?
Answer: JAK-STAT pathway. Due to receptor associated tyrosine kinase. (PiGGLET): Prolactin, GH, G-CSF, Erythropoietin, Thrombopoietin.
Flashcard 418: 4 day old infant is brought with abnormal movements -He has had intermittent episodes of tonic posturing over past 3 hours. -He also present with poor feeding, vomiting, and irritability for past 2 days. -Diapers smells like: caramelizing sugar. -Labs of plama & urine confirms Dx. -In addition to appropriate dietary restriction, supplementation with what may improve this infant's condition?
Answer: Thiamine (most common treatment) Maple syrup urine disease, due to defective breakdown of VIL (valine, leucine, isoleucine) others such as: "Tender Loving Care For Nancy" -Thiamine -Lipoate -Coenzyme -FAD -NAD
Flashcard 419: Rank the following from highest to lowest prevalence: ASD, PDA, VSD_____
Answer: VSD > ASD > PDA
Flashcard 420: What type of upper airway obstruction is seen in tracheomalacia and bronchogenic cysts?_____
Answer: Variable intrathoracic obstruction
Flashcard 421: Congential Syphilis is characterized by congenital _____ and sensorineural hearing loss due to CN VIII damage
Answer: deafness
Flashcard 422: Does Niemann Pick disease present with hepatosplenomegaly? _____
Answer: Yes
Flashcard 423: Which immunodeficiency presents with bone fractures from minor trauma? _____
Answer: Job (hyper-IgE) syndrome
Flashcard 424: Right-to-left shunts typically require urgent surgical treatment and/or maintenance of a _____
Answer: PDA
Flashcard 425: Duchenne muscular dystrophy presents with weakness in the _____ muscles and progresses superiorly
Answer: pelvic girdle
Flashcard 426: Congenital varicella syndrome can result in _____ (growth pathology)
Answer: limb hypoplasia
Flashcard 427: Does Hunter syndrome present with corneal clouding? _____
Answer: No
Flashcard 428: _____ hemangiomas appear in the first few weeks of life and grow rapidly, before regressing spontaneously
Answer: Strawberry (superficial)
Flashcard 429: Trisomy 21 is associated with _____, which are elevated white spots on the iris.
Answer: Brushfield spots
Flashcard 430: Which glycogen storage disorder is associated with cardiomegaly? _____
Answer: Pompe disease
Flashcard 431: What pathology is characterized by insatiable appetite (hyperphagia), obesity, intellectual disability, and hypogonadism? _____
Answer: Prader-Willi syndrome
Flashcard 432: _____ syndrome is a rare genetic disorder characterized by a failure to complete puberty
Answer: Kallmann
Flashcard 433: What demographic (age group) is associated with juvenile polyposis syndrome? _____
Answer: Children < 5 years old (specific)
Flashcard 434: How does sickle cell anemia present in newborns? Why? _____
Answer: Asymptomatic (high HbF, low HbS)
Flashcard 435: Which immunodeficiency is characterized by no B-cell maturation? _____
Answer: X-linked (Bruton) agammaglobulinemia
Flashcard 436: Total anomalous pulmonary venous return (TAPVR) is associated with _____ and sometimes PDA to allow for right-to-left shunting
Answer: ASD
Flashcard 437: Does Tay-Sachs disease present with hepatosplenomegaly? _____
Answer: No
Flashcard 438: _____ syndrome is characterized by many juvenile polyps in the stomach, colon, and small bowel
Answer: Juvenile polyposis
Flashcard 439: What symptoms does ventricular septal defect typically present with at birth?_____
Answer: Typically asymptomatic
Flashcard 440: Which lysosomal storage disease presents with corneal clouding? _____
Answer: Hurler syndrome
Flashcard 441: The most common cause of bladder outlet obstruction in male infants is _____
Answer: posterior urethral valves
Flashcard 442: Biliary atresia presents with _____ and progresses to cirrhosis
Answer: jaundice (CB)
Flashcard 443: Nasal polyps are associated with _____ in children
Answer: cystic fibrosis
Flashcard 444: What ocular finding is classically seen in Tay-Sachs disease?_____
Answer: "Cherry-red" spot on macula
Flashcard 445: _____ may be administered to patients with D-transposition of great vessels to maintain a PDA until definitive surgical repair is performed
Answer: PGE
Flashcard 446: In it's most severe form, fetal alcohol syndrome may cause _____ fistulas and holoprosencephaly
Answer: heart-lung
Flashcard 447: What congenital renal defect may cause portal hypertension in an infant?_____
Answer: Autosomal recessive PKD
Flashcard 448: What microdeletion syndrome is associated with supravalvular aortic stenosis and renal artery stenosis?_____
Answer: Williams syndrome
Flashcard 449: SCID is characterized by an absent _____ on CXR
Answer: thymic shadow
Flashcard 450: Which form of Crigler-Najjar syndrome is more severe? _____
Answer: Type I
Flashcard 451: Does Hurler syndrome present with corneal clouding? _____
Answer: Yes
Flashcard 452: Neonatal _____ syndrome occurs due to exposure to opiate drugs while in the mother's womb
Answer: abstinence
Flashcard 453: Why is screening for phenylketonuria performed 2-3 days after birth? _____
Answer: May be normal at birth due to maternal enzymes
Flashcard 454: _____ is a congenital heart disease characterized by downward displacement of tricuspid leaflets into the right ventricle
Answer: Ebstein anomaly
Flashcard 455: Which form of Rubella, adult or congenital, presents with sensorineural deafness?_____
Answer: Congenital
Flashcard 456: Uncorrected patent ductus arteriosus may eventually result in late cyanosis in the _____ extremities
Answer: lower
Flashcard 457: _____ is a form of congenital hypothyroidism that presents with developmental delay, protruding umbilicus, pot belly, and protruding tongue.
Answer: Cretinism
Flashcard 458: IPEX syndrome is associated with diabetes in _____ infants (gender)
Answer: male
Flashcard 459: What sensory loss can result from congenital toxoplasmosis?_____
Answer: Deafness
Flashcard 460: Patients with Tetralogy of Fallot often experience "_____ spells" which may be caused by crying, fever, and exercise due to exacerbation of RV outflow obstruction
Answer: tet
Flashcard 461: Are extragonadal germ cell tumors in the sacrococcygeal and intracranial regions most commonly associated with adults or infants / young children?_____
Answer: Infants / Young Children
Flashcard 462: _____ syndrome causes jaundice and kernicterus early in life; patients often die within a few years
Answer: Crigler-Najjar
Flashcard 463: What clinical features are seen in 21-hydroxylase deficiency that are a result of increased androgen levels in females? _____
Answer: Masculinization (clitoral enlargement, early appearance of pubic/axillary hair)
Flashcard 464: Congenital Rubella is characterized by _____ of the eye
Answer: cataracts
Flashcard 465: Why is -thalassemia major not problematic at birth? _____
Answer: High HbF is temporarily protective
Flashcard 466: What is the most common congenital heart defect that causes early cyanosis?_____
Answer: Tetralogy of Fallot
Flashcard 467: Which immunodeficiency is associated with albinism? _____
Answer: Chediak-Higashi syndrome
Flashcard 468: Which ventral wall defect is associated with Beckwith Wiedemann Syndrome?_____
Answer: Omphalocele
Flashcard 469: Congenital varicella syndrome can result in _____ (ocular pathology)
Answer: blindness
Flashcard 470: How soon after birth does pyloric stenosis typically present? _____
Answer: ~ 2 - 6 weeks
Flashcard 471: The most common cause of cretinism in the U.S. is _____
Answer: thyroid dysgenesis
Flashcard 472: Congenital Rubella is characterized by _____ of the ear
Answer: sensorineural deafness
Flashcard 473: What is the most common cause of chronic pancreatitis in children? _____
Answer: cystic fibrosis
Flashcard 474: What is the mode of inheritance of juvenile polyposis syndrome? _____
Answer: Autosomal dominant
Flashcard 475: _____ presents as chorioretinitis, hydrocephalus, and intracranial calcifications
Answer: Congenital toxoplasmosis (protozoa)
Flashcard 476: What is the most common germ cell tumor in children (esp. male infants)? _____
Answer: Endodermal sinus (yolk sac) tumor
Flashcard 477: What is the most common complication of Turner Syndrome?_____
Answer: Bicuspid aortic valve (20-30%)
Flashcard 478: What MSK pathology is associated with a space between the 3rd and 4th fingers ('trident hands')? _____
Answer: Achondroplasia
Flashcard 479: How soon after birth does intestinal atresia typically present? _____
Answer: ~ 1 - 2 days
Flashcard 480: What is the second most common cause of genetic intellectual disability? _____
Answer: Fragile X syndrome (#1 is Down syndrome)
Flashcard 481: _____ syndrome is a form of long QT syndrome that involves sensorineural deafness
Answer: Jervell and Lange-Nielsen
Flashcard 482: Most patients with truncus arteriosus have accompanying _____ defect
Answer: ventricular septal
Flashcard 483: -thalassemia _____ is the most severe form of the disease; causes severe anemia a few months after birth
Answer: major (0/0)
Flashcard 484: Which ocular complication is associated with congenital Rubella?_____
Answer: Cataracts
Flashcard 485: Wiskott-Aldrich syndrome is associated with increased risk for autoimmune disease and _____
Answer: malignancy
Flashcard 486: What pathology is associated with microcephaly, intellectual disability, and a high-pitched cry? _____
Answer: Cri-du-chat syndrome
Flashcard 487: Where is a murmur due to ventricular septal defect the loudest? _____
Answer: Tricuspid area
Flashcard 488: What pathology is associated with intellectual disability, prominent epicanthal folds, and a single palmar crease? _____
Answer: Down syndrome
Flashcard 489: Infants with _____ choanal atresia can present with upper airway obstruction and cyanosis with feeding
Answer: bilateral (unilateral / bilateral)
Flashcard 490: Is omphalocele associated with chromosomal abnormalities?_____
Answer: Yes
Flashcard 491: What pathology is characterized by inappropriate laughter, seizures, ataxia, and severe intellectual disability?_____
Answer: Angelman syndrome
Flashcard 492: _____ polyps usually present in childhood as a solitary rectal polyp that prolapses and bleeds
Answer: Juvenile
Flashcard 493: Tay-Sachs disease may present with progressive _____ and developmental delay
Answer: neurodegeneration
Flashcard 494: What newborn screening blood test is used to screen for cystic fibrosis? _____
Answer: Immunoreactive trypsinogen
Flashcard 495: Presence of _____ umbilical artery is associated with congenital and chromosomal anomalies
Answer: one
Flashcard 496: Hirschsprung disease may present with abdominal distention and _____ vomiting (bilious or nonbilious)
Answer: bilious
Flashcard 497: _____ is a congenital absence of gyri that is typically accompanied by severe mental retardation and seizures
Answer: Lissencephaly (agyria)
Flashcard 498: Patients with Edwards syndrome and Patau syndrome often die within _____ year(s) of birth
Answer: 1
Flashcard 499: Congenital Rubella is characterized by _____ of the head
Answer: microcephaly
Flashcard 500: Cystic fibrosis may present as _____ in newborns due to abnormally thick ("inspissated") stool
Answer: meconium ileus (10-20% of patients)
Flashcard 501: What teratogen causes a smooth philtrum and thin upper lip in newborns?_____
Answer: Alcohol (fetal alcohol syndrome)
Flashcard 502: How soon after birth do symptoms of galactose metabolism disorders present? _____
Answer: When feeding begins (lactose is in both breast milk and routine formula)
Flashcard 503: Esophageal atresia with distal TEF may present with abdominal distention due to _____ in the stomach (visible on CXR)
Answer: air
Flashcard 504: Congenital Rubella is characterized by _____ retardation
Answer: mental
Flashcard 505: Hirschsprung disease is characterized by failure to _____ within 48 hours and chronic constipation
Answer: pass meconium
Flashcard 506: What congenital anomaly presents with meconium discharge from the umbilicus? _____
Answer: Vitelline fistula
Flashcard 507: Where is a murmur due to patent ductus arteriosus best heard?_____
Answer: Left infraclavicular area
Flashcard 508: Which sex chromosome disorder is associated with short stature, shield chest, and webbed neck in a female? _____
Answer: Turner syndrome
Flashcard 509: What non-megaloblastic macrocytic anemia presents with rapid-onset anemia within the 1st year of life?_____
Answer: Diamond-Blackfan anemia
Flashcard 510: Risk factors for Developmental Dysplasia of the Hip include Females, Firstborns, F_____, and Family History
Answer: eet First (breech presentations)
Flashcard 511: Pyloric stenosis may present with visible _____
Answer: peristalsis
Flashcard 512: The most common cause of seizure in children is typically _____
Answer: genetic
Flashcard 513: What is the likely cause of this murmur? _____
Answer: Patent ductus arteriosus
Flashcard 514: What is the most common orthopedic disorder in newborns?_____
Answer: Developmental Dysplasia of the Hip
Flashcard 515: _____ is a congenital malformation characterized by extrusion of abdominal contents through the anterior abdominal wall
Answer: Gastroschisis
Flashcard 516: Which ventral wall defect is associated with cardiac, GU, neural tube based structural abnormalities?_____
Answer: Omphalocele
Flashcard 517: What is the most common cause of viral-associated mental retardation (in the US)?_____
Answer: CMV
Flashcard 518: Which congenital RNA viral infection can present with blueberry muffin rash?_____
Answer: Congenital Rubella
Flashcard 519: Hurler syndrome may present with developmental delay, airway _____, and hepatosplenomegaly
Answer: obstruction
Flashcard 520: Do strawberry (superficial) hemangiomas regress?_____
Answer: Yes
Flashcard 521: _____ is a congenital heart disease characterized by drainage of pulmonary veins into the right circulation
Answer: Total anomalous pulmonary venous return (TAPVR)
Flashcard 522: D-transposition of the great vessels and VSD are associated with _____
Answer: maternal diabetes (endocrine disorder)
Flashcard 523: Coarctation of the aorta in infants presents as _____ extremity cyanosis, often at birth
Answer: lower
Flashcard 524: What is the most common type of Atrial Septal Defect (ASD)?_____
Answer: Ostium secundum (90%)
Flashcard 525: _____ is characterized by a meconium plug that obstructs the intestine, preventing stool passage at birth
Answer: Meconium ileus
Flashcard 526: Congenital toxoplasmosis presents as chorioretinitis, _____, and intracranial calcifications
Answer: hydrocephalus
Flashcard 527: What effect does atrial septal defect (ASD) have on S2 splitting? _____
Answer: Causes a wide, fixed split
Flashcard 528: What lysosomal storage disease presents with optic atrophy? _____
Answer: Krabbe disease
Flashcard 529: What is the most common congenital heart defect? _____
Answer: Ventricular Septal Defect (VSD)
Flashcard 530: Potter sequence may be caused by _____ (e.g. posterior urethral valves)
Answer: bladder outlet obstruction
Flashcard 531: Which form of Rubella, adult or congenital, presents with valvular pathologies?_____
Answer: Congenital
Flashcard 532: Esophageal atresia with distal TEF presents as drooling, choking, and _____ with the first feeding
Answer: vomiting
Flashcard 533: If neonatal Ductus Arteriosus is not closing properly, this can be treated with _____
Answer: Indomethacin
Flashcard 534: DiGeorge syndrome is characterized by _____ serum parathyroid hormone
Answer: decreased
Flashcard 535: _____ is the narrowing of the aorta near the insertion of the ductus arteriosus
Answer: Coarctation of the aorta
Flashcard 536: Which ocular complication is associated with congenital CMV?_____
Answer: Chorioretinitis
Flashcard 537: What congenital renal defect is a condition of being born with only one functioning kidney (one non-functional)?_____
Answer: Congenital solitary functioning kidney
Flashcard 538: Congenital defects are the _____ leading cause of death in children
Answer: 3rd
Flashcard 539: Which form of Rubella, adult or congenital, presents with cataracts?_____
Answer: Congenital
Flashcard 540: Autosomal recessive PKD presents in infants as worsening renal failure and _____ (BP)
Answer: hypertension
Flashcard 541: The infantile form of coarctation of the aorta is associated with _____ syndrome
Answer: Turner
Flashcard 542: Pyloric stenosis typically presents with _____, projectile vomiting
Answer: nonbilious (bilious or nonbilious)
Flashcard 543: Maple syrup urine disease may cause severe CNS defects, _____ disability, and death
Answer: intellectual
Flashcard 544: Potter sequence may cause _____, which is the abnormal positioning of the mandible
Answer: retrognathia
Flashcard 545: Pulmonary Atresia often co-exists with _____ for outflow of RV
Answer: VSD
Flashcard 546: What is the major cause of death in patients with Wiskott-Aldrich syndrome? _____
Answer: Bleeding
Flashcard 547: Fanconi anemia is associated with an increased risk of developing _____
Answer: cancer (e.g. tumors, leukemia)
Flashcard 548: Does achondroplasia affect mental function, life span, and/or fertility?_____
Answer: No
Flashcard 549: Is dysplastic kidney heritable? _____
Answer: No
Flashcard 550: What is the most common cause of gastric outlet obstruction in infants? _____
Answer: Pyloric stenosis (1:600)
Flashcard 551: Spinal muscular atrophy presents with _____-lateral symmetric weakness
Answer: bi
Flashcard 552: Which neurocutaneous disorder is associated with somatic mosaicism? _____
Answer: Sturge-Weber syndrome
Flashcard 553: Alprostadil is used to maintain a _____ in the setting of certain types of congenital heart disease
Answer: Patent Ductus Arteriosus
Flashcard 554: Diamond-Blackfan anemia is characterized by increased % Hb_____, but decreased total Hb
Answer: F
Flashcard 555: Which CNS tumor compresses the optic chiasm, causing bitemporal hemianopsia, in children? _____
Answer: Craniopharyngioma
Flashcard 556: Patients with patent ductus arteriosus can be predisposed to _____ infections
Answer: respiratory tract
Flashcard 557: What is the most common cause of genetic intellectual disability? _____
Answer: Down syndrome
Flashcard 558: Congenital toxoplasmosis presents with _____, characterized by ring-enhancing lesions
Answer: intracranial calcifications
Flashcard 559: _____ is the most common cause of dwarfism
Answer: Achondroplasia
Flashcard 560: Classic galactosemia causes brain damage, which manifests as _____
Answer: intellectual disability
Flashcard 561: What ocular pathology does Krabbe disease often present with?_____
Answer: Optic atrophy
Flashcard 562: Compared to right-to-left shunts, left-to-right shunts lead to cyanosis at a(n) _____ age
Answer: later
Flashcard 563: Patients with Bloom syndrome are associated with premature _____
Answer: aging
Flashcard 564: Clavicle fractures can be seen in newborns due to _____
Answer: birth trauma
Flashcard 565: Umbilical hernias can be seen in association with _____
Answer: down syndrome
Flashcard 566: DiGeorge syndrome is characterized by an absent _____ on CXR
Answer: thymic shadow
Flashcard 567: Esophageal atresia with distal TEF is characterized by failure to pass a _____ tube into the stomach
Answer: nasogastric
Flashcard 568: Leukocyte adhesion deficiency is characterized by recurrent bacterial infections with absent _____ formation
Answer: pus
Flashcard 569: A continuous, machine-like murmur is indicative of what pathology? _____
Answer: Patent ductus arteriosus
Flashcard 570: What is the most common pathologic lead point for intussusception in children over 2? _____
Answer: Meckel diverticulum
Flashcard 571: What chromosomal abnormality is commonly associated with endocardial cushion defects? _____
Answer: Trisomy 21 (Down syndrome)
Flashcard 572: What ocular finding is classically seen in Niemann Pick disease?_____
Answer: "Cherry-red" spot on macula
Flashcard 573: Biliary atresia typically leads to biliary obstruction within the first 2 _____ of life
Answer: months
Flashcard 574: Ornithine transcarbamylase (OTC) deficiency often presents within the first few _____ of life but may present later
Answer: days
Flashcard 575: -thalassemia due to a four gene deletion causes _____ (lethal in utero)
Answer: hydrops fetalis
Flashcard 576: Patients with Zellweger Syndrome present with a profound _____, seizures, and hepatomegaly
Answer: hypotonia
Flashcard 577: Congenital Rubella is characterized by radio-_____ bone lesions
Answer: lucent
Flashcard 578: Compared to left-to-right shunts, right-to-left shunts lead to cyanosis at a(n) _____ age
Answer: earlier
Flashcard 579: Langerhans cell histiocytosis may present as recurrent _____ with a mass involving the mastoid bone
Answer: otitis media
Flashcard 580: Patients with Zellweger Syndrome often die at a _____ age
Answer: early
Flashcard 581: Trisomy 13 _____ have overlapping fingers
Answer: does not (does / does not)
Flashcard 582: Atlantoaxial instability may be seen in patients with _____ syndrome and rheumatoid arthritis
Answer: down
Flashcard 583: Which immunodeficiency presents with recurrent infection, failure to thrive, chronic diarrhea, and thrush? _____
Answer: Severe combined immunodeficiency (SCID)
Flashcard 584: What is the cause of death in Potter sequence? _____
Answer: Pulmonary hypoplasia
Flashcard 585: Meckel diverticulum typically presents during the first two _____ of life
Answer: years
Flashcard 586: What demographic is most commonly associated with embryonal rhabdomysosarcoma (sarcoma botryoides)? _____
Answer: Girls < 4 years old
Flashcard 587: Carbamoyl phosphate synthetase I deficiency presents in _____ (age group) as poorly regulated respiration and body temperature, poor feeding, developmental delay, and intellectual disability
Answer: neonates
Flashcard 588: What pathology is associated with an enlarged jaw, testes, and ears?_____
Answer: Fragile X syndrome
Flashcard 589: Osteogenesis imperfecta may be confused with _____
Answer: child abuse
Flashcard 590: D-transposition of great vessels is not compatible with life unless a _____ is created
Answer: shunt
Flashcard 591: _____ disease is characterized by defective relaxation and peristalsis of the rectum and distal sigmoid colon
Answer: Hirschsprung
Flashcard 592: Which form of polycystic kidney disease may cause Potter sequence? _____
Answer: Autosomal recessive PKD
Flashcard 593: In Potter sequence, oligohydramnios leads to pulmonary _____
Answer: hypoplasia
Flashcard 594: Intestinal atresia presents with abdominal distention and _____ vomiting (bilious or nonbilious)
Answer: bilious
Flashcard 595: What trinucleotide repeat disorder is associated with autism?_____
Answer: Fragile X syndrome
Flashcard 596: Rett syndrome is almost exclusively seen in _____ (gender)
Answer: females
Flashcard 597: When does X-linked agammagloblinemia typically present? _____
Answer: 6 months after birth
Flashcard 598: Ventricular septal defect (VSD) is associated with _____ syndrome
Answer: fetal alcohol
Flashcard 599: What is the most common congenital male reproductive abnormality?_____
Answer: Cryptorchidism
Flashcard 600: Down syndrome patients often develop Alzheimer disease by age _____
Answer: 40
Flashcard 601: Congenital toxoplasmosis presents as chorioretinitis, hydrocephalus, and _____
Answer: intracranial calcifications
Flashcard 602: Is Gastroschisis associated with chromosomal abnormalities?_____
Answer: No
Flashcard 603: Patent ductus arteriosus is associated with congenital _____ infection
Answer: rubella
Flashcard 604: Does Spinal muscular atrophy present with symmetric or asymmetric weakness?_____
Answer: Symmetric
Flashcard 605: What is the most common cause of death in infants < 1 years old? _____
Answer: Congenital malformation
Flashcard 606: Treatment for medium chain acyl-CoA dehydrogenase deficiency includes avoiding _____
Answer: fasting
Flashcard 607: Volvulus of the _____ is more commonly seen in infants and children
Answer: midgut
Flashcard 608: Which congenital penile abnormality (hypospadias or epispadias) is more common?_____
Answer: Hypospadias
Flashcard 609: Bicuspid aortic valves occur in _____% of live births
Answer: 1-2
Flashcard 610: Posterior urethral valves may be diagnosed prenatally by a _____ bladder on ultrasound
Answer: thick walled
Flashcard 611: The infantile type (Werdnig-Hoffman) of Spinal Muscular Atrophy has a median age of death of _____
Answer: 7 months
Flashcard 612: Ovotesticular disorder of sex development, also known as true _____, is the presence of both ovarian and testicular tissue
Answer: hermaphroditism
Flashcard 613: Hemangiomas commonly present at birth and often _____ during childhood
Answer: regress
Keywords: Congenital defects flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
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Neural tube defects
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Congenital heart defects
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Gastrointestinal malformations
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Genitourinary anomalies
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Craniofacial anomalies
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Skeletal dysplasias
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Chromosomal disorders
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Teratogenic exposures
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Multiple malformation syndromes
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Prenatal diagnosis of congenital defects
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Surgical management timing
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Long-term outcomes and follow-up
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Preventive strategies
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