Congenital defects — MCQs

A 35-year-old woman has been trying to conceive with her 37-year-old husband for the past 4 years. After repeated visits to a fertility clinic, she finally gets pregnant. Although she missed most of her antenatal visits, her pregnancy was uneventful. A baby girl is born at the 38th week of gestation with some abnormalities. She has a flat face with upward-slanting eyes and a short neck. The tongue seems to be protruding from a small mouth. She has poor muscle tone and excessive joint laxity. The pediatrician orders an analysis of the infant’s chromosomes, also known as a karyotype (see image). The infant is most likely to suffer from which of the following conditions in the future?

A full-term and healthy infant girl presents to the office for a newborn visit. The baby was born at 40 weeks to a 35-year-old G2P1 mother via cesarean section for breech presentation. She had an unremarkable delivery and hospital course, but family history is significant for a sister with developmental dysplasia of the hip (DDH). A physical exam is normal. During a discussion with the mother about the possibility of screening imaging for DDH she becomes very anxious and would like something done as soon as possible. What would be the imaging of choice in this scenario?

A 2500-g (5.5-lb) male newborn is delivered at 35 weeks' gestation to a 25-year-old woman, gravida 2, para 1. The pregnancy was complicated by oligohydramnios. Pulse oximetry on room air shows an oxygen saturation of 78%. Examination in the delivery room shows that the newborn's skin appears blue with weak cry and irregular breathing and gasping. The nose is flat with bilateral epicanthal folds. The ears are low-set with broad auricles. The lower jaw is abnormally displaced backwards. The right lower limb appears shorter than the left lower limb with displaced right great toe. Breath sounds are decreased bilaterally. Renal ultrasound shows bilateral dilatation of the renal pelvis and ureters. Which of the following is most likely to confirm the underlying cause of this patient's condition?

A 4-year-old girl is brought to the clinic by her parents, who are concerned about an abdominal swelling that they noticed 2 days ago. The family immigrated from Bangladesh to the United States recently. The mother mentions that the girl has never been as active as other children of the same age but has no medical conditions either. Her appetite has declined, and she vomited a few times last week. On physical examination, slight prominence of frontal bosses at the forehead is noticeable with malar prominence and massive splenomegaly. Slight beading at the end of her ribs is evident. She has a dusky complexion, sclerae are anicteric, and oral mucosa is pale. Laboratory results are pending. Which of the following is the most likely explanation for the findings seen in this patient?

A 4-year-old boy presents with involuntary jerks seen in his upper extremities. The patient’s mother says that “his eyes move in different directions every now and then”. Last winter, the patient had chickenpox but otherwise has always been healthy. His vital signs are a blood pressure of 100/90 mm Hg, temperature of 36.8°C (98.2°F), and respiratory rate of 17/min. On physical examination, the patient’s eyes move chaotically in all directions. Laboratory tests are unremarkable, except for a random urinary vanillylmandelic acid (VMA) level of 18 mg/g creatinine (reference range for children aged 2–4 years: < 13 mg/g creatinine). An abdominal ultrasound shows a 2 cm x 3 cm x 5 cm mass in the left adrenal gland. A biopsy of the mass reveals neuroblasts arranged in a rosette pattern. Which of the following oncogenes is most commonly associated with this condition?

A 7-month-old boy is brought to the ED by his mother because of abdominal pain. Two weeks ago, she noticed he had a fever and looser stools, but both resolved after a few days. One week ago, he began to experience periodic episodes during which he would curl up into a ball, scream, and cry. The episodes lasted a few minutes, and were occasionally followed by vomiting. Between events, he was completely normal. She says the episodes have become more frequent over time, and this morning, she noticed blood in his diaper. In the ED, his vitals are within normal ranges, and his physical exam is normal. After confirming the diagnosis with an abdominal ultrasound, what is the next step in management?

A 5-year-old girl is brought to a medical office for evaluation of persistent abdominal pain that has worsened over the past 24 hours. The mother states that the girl often has constipation which has worsened over the last 3 days. The mother denies that the girl has had bloody stools. The girl has not had a bowel movement or passed flatulence in 72 hours. She has vomited 3 times since last night and refuses to eat. She has no significant medical history, including no history of surgeries. On exam, there are no abdominal masses; however, the upper abdomen is distended and tympanic. What is the most likely underlying cause of the girl’s symptoms?

A 4-day-old newborn is brought to the physician because of a generalized rash for 1 day. He was born at term. The mother had no prenatal care and has a history of gonorrhea, which was treated 4 years ago. The newborn is at the 50th percentile for head circumference, 60th percentile for length, and 55th percentile for weight. His temperature is 36.8°C (98.2°F), pulse is 152/min, and respirations are 51/min. Examination shows an erythematous maculopapular rash and pustules with an erythematous base over the trunk and extremities, sparing the palms and soles. The remainder of the examination shows no abnormalities. Which of the following is the most likely diagnosis?

A 2-week-old newborn is brought to the physician for a follow-up examination. He was born at term and the pregnancy was uncomplicated. His mother says he has been feeding well and passing adequate amounts of urine. He appears healthy. He is at the 60th percentile for length and 40th percentile for weight. His temperature is 37.3°C (99.1°F), pulse is 130/min, respirations are 49/min and blood pressure is 62/40 mm Hg. A thrill is present over the third left intercostal space. A 5/6 holosystolic murmur is heard over the left lower sternal border. An echocardiography shows a 3-mm membranous ventricular septal defect. Which of the following is the most appropriate next step in management?

A 4-week-old male presents with his parents to the pediatrician for a well-child visit. The patient’s mother reports that the patient was eating well until about one week ago, when he began vomiting after breastfeeding. His mother has tried increasing the frequency of feeds and decreasing the amount of each feed, but the vomiting seems to be getting worse. The patient now vomits after every feed. His mother states the vomitus looks like breastmilk. The patient’s mother is exclusively breastfeeding and would prefer not to switch to formula but worries that the patient is not getting the nutrition he needs. Two weeks ago, the patient was in the 75th percentile for weight and 70th for height. He is now in the 60th percentile for weight and 68th percentile for height. On physical exam, the patient has dry mucous membranes. His abdomen is soft and non-distended. Which of the following is the best next step in management?