Congenital defects Practice Questions

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?

Accepted Answer

Meiotic non-disjunction

Answer

Uniparental disomy

Answer

Genomic imprinting

Answer

Partial deletion

Answer

Trinucleotide repeat

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?

Accepted Answer

First branchial arch

Answer

Second branchial cleft

Answer

First branchial pouch

Answer

Third and fourth branchial pouches

Answer

Second branchial arch

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?

Accepted Answer

Closure of the neural tube

Answer

Formation of male genitalia

Answer

Movement of limbs

Answer

Creation of the notochord

Answer

Cardiac activity visible on ultrasound

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?

Accepted Answer

Ask the mother to step outside into the hall for a portion of the visit

Answer

Disallow the mother to be present in the examination room throughout the entirety of the visit

Answer

Give the patient a social history questionnaire to fill out in the exam room

Answer

Ask the patient the questions directly, with her mother still in the exam room

Answer

Speak softly to the patient so that the mother does not hear and the patient is not embarrassed

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?

Accepted Answer

Reassurance of the parents and regular follow-up

Answer

Surgical closure of the defect using cardiopulmonary bypass

Answer

Oral digoxin and regular follow-up

Answer

Antibiotic prophylaxis against infective endocarditis

Answer

Transcatheter occlusion closure of the defect

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?

Accepted Answer

Holosystolic murmur

Answer

Cataracts

Answer

Congenital deafness

Answer

Limb hypoplasia

Answer

Wide notched teeth

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?

Accepted Answer

A 2-year-old boy with a 2-mm supracristal defect, without heart failure, pulmonary hypertension, or growth failure

Answer

A 7-year-old boy with an 11-mm muscular defect and severe pulmonary vascular disease non-responsive to pulmonary vasodilators

Answer

An 11-month-old female infant with a 6-mm membranous defect, without heart failure, pulmonary hypertension, or growth failure

Answer

A 4-month-old male infant with a 12-mm muscular defect, without heart failure, pulmonary hypertension or growth failure

Answer

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

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?

Accepted Answer

Supravalvular aortic stenosis

Answer

Absent thymus gland

Answer

Brushfield spots on the iris

Answer

Testicular enlargement

Answer

Hand flapping movements

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?

Accepted Answer

Urine discharge from umbilicus

Answer

Myelomeningocele

Answer

Gastroschisis

Answer

Omphalocele

Answer

Meconium discharge from umbilicus

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?

Accepted Answer

Atrioventricular septal defect

Answer

Tetralogy of Fallot

Answer

Atrial septal defect

Answer

Patent ductus arteriosus

Answer

Ventricular septal defect

Congenital defects

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Neural tube defects

Congenital heart defects

Gastrointestinal malformations

Genitourinary anomalies

Craniofacial anomalies

Skeletal dysplasias

Chromosomal disorders

Teratogenic exposures

Multiple malformation syndromes

Prenatal diagnosis of congenital defects

Surgical management timing

Long-term outcomes and follow-up

Preventive strategies

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About Congenital defects for USMLE

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Master Congenital defects