Congenital defects

Congenital defects US Medical PG Question 1: A 1-year-old girl born to a 40-year-old woman is undergoing an examination by a pediatric resident in the hospital. The pregnancy was uneventful and there were no complications during the delivery. The physical examination reveals midface hypoplasia with a flat nasal bridge and upslanting palpebral fissures. She has a small mouth and chest auscultation reveals a blowing holosystolic murmur that is heard best along the sternal border. The family history is unremarkable. A karyotype analysis is ordered because the resident suspects a numerical chromosomal disorder. Which of the following phenomena leads to the infant’s condition?

• A. Meiotic non-disjunction (Correct Answer)
• B. Uniparental disomy
• C. Genomic imprinting
• D. Partial deletion
• E. Trinucleotide repeat

Congenital defects Explanation: ***Meiotic non-disjunction*** - The combination of **midface hypoplasia**, **upslanting palpebral fissures**, **flat nasal bridge**, and a **holosystolic murmur** (suggesting a **ventricular septal defect**) in an infant born to an older mother is highly characteristic of **Down syndrome (Trisomy 21)**. - **Trisomy 21** is most commonly caused by **meiotic non-disjunction**, where homologous chromosomes fail to separate during meiosis I or sister chromatids fail to separate during meiosis II, resulting in a gamete with an extra chromosome 21. *Uniparental disomy* - **Uniparental disomy** occurs when an individual receives both copies of a chromosome from a single parent, rather than one from each parent. - While it can lead to various genetic disorders, it does not typically cause **Trisomy 21** or the specific constellation of features described. *Genomic imprinting* - **Genomic imprinting** is an epigenetic phenomenon where certain genes are expressed in a parent-of-origin specific manner. - While relevant to conditions like Prader-Willi or Angelman syndromes, it is not the mechanism responsible for **Trisomy 21**. *Partial deletion* - A **partial deletion** refers to the loss of a segment of a chromosome. - While chromosomal deletions cause various syndromes (e.g., Cri-du-chat syndrome), they would result in a **monosomy or partial monosomy**, not the extra chromosome seen in Trisomy 21. *Trinucleotide repeat* - **Trinucleotide repeat disorders** involve an abnormal expansion of a three-nucleotide sequence within a gene, leading to conditions like Huntington's disease or fragile X syndrome. - This mechanism is not associated with the etiology of **Down syndrome**.

Congenital defects US Medical PG Question 2: A 10-year-old boy comes for a post-operative clinic visit with his ENT surgeon three months after airway reconstruction surgery and placement of a tracheostomy tube. Since the surgery, he says that he has been able to breathe better and is now getting used to tracheostomy care and tracheostomy tube changes. In addition to this surgery, he has had over twenty surgeries to implant hearing aids, reconstruct his cheekbones, and support his jaw to enable him to swallow. He was born with these abnormalities and had difficult breathing, hearing, and eating throughout his childhood. Fortunately, he is now beginning to feel better and is able to attend public school where he is one of the best students in the class. Abnormal development of which of the following structures is most likely responsible for this patient's malformations?

• A. Second branchial cleft
• B. First branchial pouch
• C. Third and fourth branchial pouches
• D. First branchial arch (Correct Answer)
• E. Second branchial arch

Congenital defects Explanation: ***First branchial arch*** - The clinical presentation describes features consistent with **Treacher Collins syndrome** (TCS), also known as mandibulofacial dysostosis, which results from maldevelopment of **both the first and second branchial arches**. - However, the **predominant and most characteristic features** arise from **first branchial arch** abnormalities: **mandibular hypoplasia** (requiring jaw support for swallowing), **malar/zygomatic hypoplasia** (reconstructed cheekbones), and **maxillary hypoplasia**. - These first arch skeletal abnormalities cause the **airway obstruction** (requiring tracheostomy) and feeding difficulties. - The first branchial arch gives rise to: **mandible, maxilla, zygomatic bone, incus, malleus, muscles of mastication, and CN V** (trigeminal nerve). - While hearing issues may involve second arch structures (stapes), the **overwhelming majority** of this patient's clinical problems stem from first arch malformations. *Second branchial cleft* - The second branchial cleft typically forms the **cervical sinus**, which normally obliterates. Persistence can lead to **cervical cysts or fistulas**, presenting as neck masses. - Abnormalities of the second branchial cleft do not explain the extensive craniofacial malformations, hearing deficits, or airway compromise seen in this patient. *First branchial pouch* - The first branchial pouch gives rise to the **auditory (eustachian) tube** and the **tympanic cavity** (middle ear). - While isolated first pouch defects could contribute to hearing problems, they would **not explain** the severe facial bone malformations (mandibular and malar hypoplasia), airway obstruction, or feeding difficulties. - The pouch is distinct from the arch, which forms the skeletal and muscular structures. *Third and fourth branchial pouches* - The third branchial pouch contributes to the **inferior parathyroid glands** and the **thymus**. The fourth branchial pouch contributes to the **superior parathyroid glands** and the **ultimobranchial body** (parafollicular C cells of the thyroid). - Abnormalities in these pouches, such as in **DiGeorge syndrome (22q11.2 deletion)**, lead to **T-cell immunodeficiency, hypocalcemia, and cardiac defects** but do not account for the craniofacial and hearing abnormalities described. *Second branchial arch* - The second branchial arch gives rise to the **stapes**, **styloid process**, **lesser horn and upper body of hyoid bone**, **stapedius muscle**, and **CN VII** (facial nerve). - While Treacher Collins syndrome involves both first and second arch abnormalities, the **second arch contributions** are less prominent clinically. - Second arch defects could contribute to **conductive hearing loss** (via stapes abnormalities) and **facial nerve issues**, but these are not the predominant features in this case. - The critical skeletal malformations causing airway compromise, feeding difficulties, and facial dysmorphism are primarily **first arch** derivatives.

Congenital defects US Medical PG Question 3: A 25-year-old female comes to her obstetrician’s office for a prenatal visit. She has a transvaginal ultrasound that correlates with her last menstrual period and dates her pregnancy at 4 weeks. She has no complaints except some nausea during the morning that is improving. She comments that she has had some strange food cravings, but has no issues with eating a balanced diet. Her BMI is 23 kg/m^2 and she has gained 1 pound since the start of her pregnancy. She is curious about her pregnancy and asks the physician what her child is now able to do. Which of the following developments is expected of the fetus during this embryological phase?

• A. Formation of male genitalia
• B. Closure of the neural tube (Correct Answer)
• C. Movement of limbs
• D. Creation of the notochord
• E. Cardiac activity visible on ultrasound

Congenital defects Explanation: ***Closure of the neural tube*** - At **4 weeks gestation**, the **neural tube** is in the process of closing, forming the precursor for the brain and spinal cord, making this a critical developmental milestone. - This period is vital for the prevention of neural tube defects like **spina bifida** and **anencephaly**. *Formation of male genitalia* - The differentiation of **external genitalia** (male or female) occurs much later, typically around weeks **9-12 of gestation**, much later than the 4-week mark discussed here. - Prior to this, the genital ridges are bipotential and do not yet show sex-specific characteristics. *Movement of limbs* - While limb buds begin to appear around 4-5 weeks, coordinated **limb movements** are typically observed much later, around **10-12 weeks** of gestation, as muscular and neurological systems further develop. - Early movements are typically subtle and reflex-like, rather than purposeful. *Creation of the notochord* - The **notochord** is formed during **gastrulation**, which occurs predominantly in the **third week of gestation**, prior to the 4-week mark. - It serves as the primary axial support for the embryo and induces the formation of the neural tube. *Cardiac activity visible on ultrasound* - **Cardiac activity** typically becomes detectable on transvaginal ultrasound between **5 and 6 weeks gestation**, shortly after the 4-week mark. - At 4 weeks, the heart tube may have started to form, but discernible beating is usually not yet evident.

Congenital defects US Medical PG Question 4: A 15-year-old female presents to her family physician for an annual school physical exam and check-up. She is accompanied by her mother to the visit and is present in the exam room. The patient has no complaints, and she does not have any past medical problems. She takes no medications. The patient reports that she remains active, exercising 5 times a week, and eats a healthy and varied diet. Which of the following would be the best way for the physician to obtain a more in-depth social history, including sexual history and use of alcohol, tobacco, or recreational drugs?

• A. Disallow the mother to be present in the examination room throughout the entirety of the visit
• B. Give the patient a social history questionnaire to fill out in the exam room
• C. Ask the mother to step outside into the hall for a portion of the visit (Correct Answer)
• D. Ask the patient the questions directly, with her mother still in the exam room
• E. Speak softly to the patient so that the mother does not hear and the patient is not embarrassed

Congenital defects Explanation: ***Ask the mother to step outside into the hall for a portion of the visit*** - This approach allows the physician to speak with the adolescent **privately and confidentially**, which is crucial for obtaining sensitive information such as sexual history, drug use, and mental health concerns. - Adolescents are more likely to disclose personal information when their parents are not present, fostering trust and ensuring **comprehensive history-taking** vital for their well-being. *Disallow the mother to be present in the examination room throughout the entirety of the visit* - This is an **overly restrictive** approach that might create tension or distrust between the physician, patient, and parent, especially at the start of the visit. - While privacy is essential for sensitive topics, parental presence can be valuable for discussing general health, family history, and **treatment plans**, especially for younger adolescents. *Give the patient a social history questionnaire to fill out in the exam room* - While questionnaires can be useful for gathering basic information, they often **lack the nuance** of a direct conversation and may not prompt the patient to elaborate on sensitive issues. - Furthermore, having the mother present while the patient fills out a questionnaire on sensitive topics still **compromises confidentiality** and may lead to incomplete or dishonest answers. *Ask the patient the questions directly, with her mother still in the exam room* - Asking sensitive questions with a parent present is **unlikely to yield truthful and complete answers**, as adolescents may feel embarrassed, judged, or fear parental disapproval. - This approach compromises the **confidentiality** that is fundamental to building trust with adolescent patients. *Speak softly to the patient so that the mother does not hear and the patient is not embarrassed* - Speaking softly is **unprofessional** and still does not guarantee privacy, as the mother might still overhear parts of the conversation. - This method also **fails to establish true confidentiality**, which is central to building rapport and encouraging open communication with adolescent patients about sensitive topics.

Congenital defects US Medical PG Question 5: A 15-month-old boy is brought to the pediatrician for immunizations and assessment. His parents report that he is eating well and produces several wet diapers every day. He is occasionally fussy, but overall a happy and curious child. The boy was born at 39 weeks gestation via spontaneous vaginal delivery. On physical examination his vital signs are stable. His weight and height are above the 85th percentile for his age and sex. On chest auscultation, the pediatrician detects a loud harsh holosystolic murmur over the left lower sternal border. The first and second heart sounds are normal. An echocardiogram confirms the diagnosis of the muscular ventricular septal defect without pulmonary hypertension. Which of the following is the best management strategy for this patient?

• A. Surgical closure of the defect using cardiopulmonary bypass
• B. Reassurance of the parents and regular follow-up (Correct Answer)
• C. Oral digoxin and regular follow-up
• D. Antibiotic prophylaxis against infective endocarditis
• E. Transcatheter occlusion closure of the defect

Congenital defects Explanation: **Reassurance of the parents and regular follow-up** - Most **small muscular VSDs (Ventricular Septal Defects)**, especially in asymptomatic children with normal growth and no signs of heart failure or pulmonary hypertension, **close spontaneously**. - Given the patient's normal development, stable vital signs, good feeding, and lack of pulmonary hypertension, a conservative approach with **monitoring for spontaneous closure** is appropriate. *Surgical closure of the defect using cardiopulmonary bypass* - **Surgical VSD closure** is typically reserved for large defects causing **symptoms, growth failure, pulmonary hypertension**, or those that fail to close spontaneously. - The patient in the scenario is asymptomatic and thriving, which does not warrant an invasive procedure at this time. *Oral digoxin and regular follow-up* - **Digoxin** is a medication used to improve **cardiac contractility** and manage symptoms of **heart failure**, which this patient does not exhibit. - It would only be considered if there were signs of **congestive heart failure** due to a large VSD, which is not the case here. *Antibiotic prophylaxis against infective endocarditis* - Current guidelines from the American Heart Association (AHA) generally **do not recommend routine antibiotic prophylaxis** for VSDs unless there's a history of infective endocarditis or uncorrected cyanotic heart disease. - The risk of **infective endocarditis** is very low in isolated VSDs and the potential side effects of prophylactic antibiotics outweigh the benefits. *Transcatheter occlusion closure of the defect* - **Transcatheter closure** is an option for certain types of VSDs, often **muscular VSDs**, but typically for those that are **larger, symptomatic**, and have not closed spontaneously. - Similar to surgical closure, this invasive procedure is not indicated for an **asymptomatic, thriving child** with a muscular VSD that is likely to close on its own.

Congenital defects US Medical PG Question 6: A 6-year-old boy is brought in for evaluation by his adopted mother due to trouble starting 1st grade. His teacher has reported that he has been having trouble focusing on tasks and has been acting out while in class. His family history is unknown as he was adopted 2 years ago. His temperature is 36.2°C (97.2°F), pulse is 80/min, respirations are 20/min, and blood pressure 110/70 mm Hg. Visual inspection of the boy's face shows a low set nasal bridge, a smooth philtrum, and small lower jaw. Which of the following findings would also likely be found on physical exam?

• A. Cataracts
• B. Congenital deafness
• C. Holosystolic murmur (Correct Answer)
• D. Limb hypoplasia
• E. Wide notched teeth

Congenital defects Explanation: **Holosystolic murmur** - The child exhibits classic features of **fetal alcohol syndrome** (FAS), including the distinctive facial anomalies (low set nasal bridge, smooth philtrum, small lower jaw) and developmental/behavioral issues (trouble focusing, acting out). - Up to 50% of children with FAS develop **congenital heart defects**, with **ventricular septal defects (VSDs)** being the most common, which are characterized by a **holosystolic murmur** at the lower left sternal border. *Cataracts* - **Cataracts** are not a typical feature of fetal alcohol syndrome but are often associated with congenital infections such as **rubella** or **cytomegalovirus**. - While some genetic syndromes can include cataracts, they are not a primary finding for the constellation of symptoms observed here. *Congenital deafness* - **Congenital deafness** is not a hallmark of fetal alcohol syndrome; rather, it is commonly associated with congenital infections like **rubella**, **CMV**, or genetic syndromes such as **CHARGE syndrome**. - Children with FAS may have hearing problems due to recurrent ear infections, but not typically congenital deafness. *Limb hypoplasia* - **Limb hypoplasia** is typically seen in conditions like **thalidomide embryopathy** or certain genetic syndromes, such as **Roberts syndrome**. - While growth restriction is common in FAS, significant limb hypoplasia as described is not a characteristic feature. *Wide notched teeth* - **Wide notched teeth**, also known as **Hutchinson teeth**, are pathognomonic for **congenital syphilis**. - This finding is unrelated to fetal alcohol syndrome, and the patient's other symptoms do not suggest congenital syphilis.

Congenital defects US Medical PG Question 7: Over the course of a year, 5 children with identical congenital heart defects were referred to a pediatric cardiac surgeon for evaluation. All 5 children had stable vital signs and were on appropriate medication. Upon review of medical records, all of them had a loud holosystolic murmur over the third intercostal space at the left sternal border. The surgeon ordered echocardiograms for all 5 children and recommended surgical closure of the defect in one of them. Which of the following patients required surgical repair of their defect?

• A. A 7-year-old boy with an 11-mm muscular defect and severe pulmonary vascular disease non-responsive to pulmonary vasodilators
• B. An 11-month-old female infant with a 6-mm membranous defect, without heart failure, pulmonary hypertension, or growth failure
• C. A 4-month-old male infant with a 12-mm muscular defect, without heart failure, pulmonary hypertension or growth failure
• D. A 5-year-old girl with a 2-mm membranous defect, no heart failure, a Qp:Qs ratio less than 2:1, and no growth failure
• E. A 2-year-old boy with a 2-mm supracristal defect, without heart failure, pulmonary hypertension, or growth failure (Correct Answer)

Congenital defects Explanation: ***A 2-year-old boy with a 2-mm supracristal defect, without heart failure, pulmonary hypertension, or growth failure*** - This patient description most closely matches the criteria for requiring surgical repair. **Supracristal VSDs** are more prone to **aortic valve prolapse** and **aortic regurgitation**, even with small defects and absent or mild symptoms, thus warranting early surgical consideration. - While other symptomatic VSDs might require surgery, this specific type of VSD carries a unique risk to the aortic valve, making surgical intervention often necessary to prevent future complications. *A 7-year-old boy with an 11-mm muscular defect and severe pulmonary vascular disease non-responsive to pulmonary vasodilators* - This patient likely has **Eisenmenger syndrome**, characterized by **irreversible pulmonary vascular disease** and right-to-left shunting. - Surgical repair of the VSD is **contraindicated** in such cases and would likely worsen the patient's condition. *An 11-month-old female infant with a 6-mm membranous defect, without heart failure, pulmonary hypertension, or growth failure* - Small to moderate membranous VSDs in asymptomatic infants often **close spontaneously**, especially in the first year of life. - Without signs of **heart failure**, **pulmonary hypertension**, or **growth failure**, a watch-and-wait approach is typically preferred over immediate surgery. *A 4-month-old male infant with a 12-mm muscular defect, without heart failure, pulmonary hypertension or growth failure* - Although this is a **large muscular VSD**, the infant is currently **asymptomatic** without heart failure, pulmonary hypertension, or growth failure. - In the **absence of symptoms or hemodynamic compromise**, initial management includes close observation with medical therapy as needed. Surgery would be indicated if symptoms develop or significant shunting occurs. - Note: While small muscular VSDs (<5mm) often close spontaneously, large defects like this require vigilant monitoring as they may eventually require intervention. *A 5-year-old girl with a 2-mm membranous defect, no heart failure, a Qp:Qs ratio less than 2:1, and no growth failure* - A 2-mm membranous defect is considered a **small VSD**, and a Qp:Qs ratio less than 2:1 indicates an **insignificant shunt**. - Small VSDs, particularly in older children who are asymptomatic, very often close spontaneously or remain hemodynamically insignificant, and typically do not require surgical intervention.

Congenital defects US Medical PG Question 8: A 9-year-old boy is brought to the physician because his parents are concerned that he has been unable to keep up with his classmates at school. He is at the 4th percentile for height and at the 15th percentile for weight. Physical examination shows dysmorphic facial features. Psychologic testing shows impaired intellectual and adaptive functions. Genetic analysis shows a deletion of the long arm of chromosome 7. Which of the following is the most likely additional finding in this patient?

• A. Absent thymus gland
• B. Supravalvular aortic stenosis (Correct Answer)
• C. Brushfield spots on the iris
• D. Testicular enlargement
• E. Hand flapping movements

Congenital defects Explanation: ***Supravalvular aortic stenosis*** - The clinical presentation, including **dysmorphic facial features**, **growth restriction**, and **intellectual disability**, coupled with a **deletion on the long arm of chromosome 7**, is highly suggestive of **Williams syndrome**. - **Supravalvular aortic stenosis** is a classic cardiovascular finding in **Williams syndrome**, present in about 75% of affected individuals. *Absent thymus gland* - An absent thymus gland is characteristic of **DiGeorge syndrome**, which is caused by a **deletion on chromosome 22q11**. - This patient's genetic analysis indicates a deletion on **chromosome 7**, not chromosome 22. *Brushfield spots on the iris* - **Brushfield spots** are characteristic of **Down syndrome** (**trisomy 21**). - The genetic finding of a **deletion on chromosome 7** rules out Down syndrome as the underlying cause. *Testicular enlargement* - **Testicular enlargement** is a hallmark feature of **Fragile X syndrome**, a genetic condition caused by an **FMR1 gene mutation** on the X chromosome. - This patient's symptoms and genetic findings of a **chromosome 7 deletion** are not consistent with Fragile X syndrome. *Hand flapping movements* - **Hand flapping** is a common repetitive behavior observed in individuals with **autism spectrum disorder** and is also seen in some other genetic conditions like **Rett syndrome**. - While individuals with Williams syndrome may have unique behavioral profiles, hand flapping is not a specific or typical feature of the syndrome, and the genetic finding points to Williams syndrome.

Congenital defects US Medical PG Question 9: A 26-year-old G1P0 mother is in the delivery room in labor. Her unborn fetus is known to have a patent urachus. Which of the following abnormalities would you expect to observe in the infant?

• A. Myelomeningocele
• B. Gastroschisis
• C. Urine discharge from umbilicus (Correct Answer)
• D. Omphalocele
• E. Meconium discharge from umbilicus

Congenital defects Explanation: ***Urine discharge from umbilicus*** - A **patent urachus** is a congenital anomaly where the **urachus**, a remnant of the **allantois**, fails to close completely, allowing a direct connection between the bladder and the umbilicus. - This patent tract results in the **continuous discharge of urine from the umbilicus**, especially upon crying or straining, as the bladder pressure increases. *Myelomeningocele* - **Myelomeningocele** is a severe form of **spina bifida** where the spinal cord and nerves protrude through an opening in the back. - It results from incomplete closure of the neural tube and is not directly related to the urachus or umbilical discharge. *Gastroschisis* - **Gastroschisis** is a birth defect where the intestines protrude through an opening in the abdominal wall, typically to the right of the umbilicus. - Unlike a patent urachus, it involves the protrusion of abdominal contents and is not associated with umbilical urine discharge. *Omphalocele* - An **omphalocele** is a birth defect in which parts of the abdominal organs, such as the intestines, liver, or stomach, protrude through the umbilical opening, covered by a sac. - This condition is also an abdominal wall defect but distinct from a patent urachus, which specifically involves the connection between the bladder and the umbilicus. *Meconium discharge from umbilicus* - **Meconium discharge from the umbilicus** would suggest a persistent communication between the bowel and the umbilicus, rather than the bladder. - This condition, known as a **patent vitelline duct** or omphalomesenteric duct, is anatomically distinct from a patent urachus.

Congenital defects US Medical PG Question 10: A 2300-g (5.07-lb) male newborn is delivered at term to a 39-year-old woman. Examination shows a sloping forehead, a flat nasal bridge, increased interocular distance, low-set ears, a protruding tongue, a single palmar crease and an increased gap between the first and second toe. There are small white and brown spots in the periphery of both irises. The abdomen is distended. An x-ray of the abdomen shows two large air-filled spaces in the upper quadrant. This patient's condition is most likely associated with which of the following cardiac anomalies?

• A. Atrioventricular septal defect (Correct Answer)
• B. Tetralogy of Fallot
• C. Atrial septal defect
• D. Patent ductus arteriosus
• E. Ventricular septal defect

Congenital defects Explanation: ***Atrioventricular septal defect*** - The constellation of dysmorphic features (sloping forehead, flat nasal bridge, low-set ears, protruding tongue, single palmar crease, increased gap between first and second toe, Brushfield spots) and **duodenal atresia** (double bubble sign on X-ray) are highly suggestive of **Down syndrome** (Trisomy 21). - **Atrioventricular septal defects (AVSDs)**, also known as endocardial cushion defects, are the most common and classic cardiac anomaly associated with **Down syndrome**, occurring in about 40-50% of affected children. *Tetralogy of Fallot* - While **Tetralogy of Fallot** is a cyanotic heart defect, it is not the most common cardiac anomaly associated with Down syndrome. - It involves four specific defects: **ventricular septal defect**, **pulmonary stenosis**, **overriding aorta**, and **right ventricular hypertrophy**. *Atrial septal defects* - **Atrial septal defects (ASDs)** are a type of congenital heart defect where there is a hole in the septum between the two atria of the heart. - While ASDs can occur in Down syndrome, they are less common than AVSDs and are often part of a more complex AVSD rather than isolated. *Patent ductus arteriosus* - **Patent ductus arteriosus (PDA)** is the persistence of the fetal ductus arteriosus in a newborn after birth. - While PDAs can occur in infants with Down syndrome, they are also very common in **premature infants** and are not the most characteristic cardiac lesion. *Ventricular septal defect* - **Ventricular septal defect (VSD)** is a hole in the septum separating the two ventricles of the heart. - VSDs are common congenital heart defects and can be found in Down syndrome, but **AVSDs** are more specific and prevalent in this condition, often involving a component of a VSD.

Congenital defects Flashcard 1 of 10

Question: Which ventral wall defect is associated with cardiac, GU, neural tube based structural abnormalities?_____

Answer: Omphalocele

Congenital defects Flashcard 2 of 10

Question: Congenital Rubella is characterized by _____ retardation

Answer: mental

Congenital defects Flashcard 3 of 10

Question: _____ is a congenital heart disease characterized by drainage of pulmonary veins into the right circulation

Answer: Total anomalous pulmonary venous return (TAPVR)

Congenital defects Flashcard 4 of 10

Question: _____ syndrome is a form of long QT syndrome that involves sensorineural deafness

Answer: Jervell and Lange-Nielsen

Congenital defects Flashcard 5 of 10

Question: iodide (lack)

Answer: congenital goiter

Congenital defects Flashcard 6 of 10

Question: iodide (excess)

Answer: congenital hypothyroidism

Congenital defects Flashcard 7 of 10

Question: X-rays

Answer: microcephaly, mental retardation

Congenital defects Flashcard 8 of 10

Question: fetal hydantoin syndrome

Answer:

Extra Information: in newborn: microcephaly, dysmorphic craniofacial features, hypoplastic nails and distal phalanges, cardiac defects, IUGR, mental retardation

Congenital defects Flashcard 9 of 10

Question: spina bifida with myelomeningocele

Answer:

Extra Information: newborn with fluid- and tissue-filled sac protruding from lower spinesurgerymaternal folate deficiencyfailure of bony spinal canal closure with herniation of meninges and spinal cord

Congenital defects Flashcard 10 of 10

Question: What congenital defects are associated with Down syndrome?

Answer: duodenal atresia/stenosis, cardiac abnormalities (ASD/VSD)