Congenital defects — MCQs

A 1-month-old girl is brought to the physician for a follow-up examination. The mother has noticed that the girl's neck is always tilted to the right. She was delivered at term, and childbirth was complicated by a breech position. There is no family history of serious illness. She appears healthy. She is at 60th percentile for length and weight. Her temperature is 37.1°C (98.8°F), pulse is 102/min, and respirations are 42/min. Examination shows the head tilted toward the right, and the chin rotated towards the left. Range of motion of the neck is limited. There is a palpable, firm, well-circumscribed mass in the right lower side of the neck. The remainder of the examination shows no abnormalities. Which of the following is the most appropriate next best step in management?

A 4-month-old is noted to have a grade 3/6, harsh, systolic ejection murmur heard at the left upper sternal border. The mother reports that the child's lips occasionally turn blue during feeding. A cardiologist recommends surgery. Later, the physician remarks that the infant's congenital abnormality was related to a failure of neural crest cell migration. Prior to surgery, which of the following was a likely finding?

A 10-month-old boy is being treated for a rare kind of anemia and is currently being evaluated for a bone marrow transplant. The patient’s mother presents to an appointment with their pediatrician after having done some online research. She has learned that the majority of patients inherit this condition as an autosomal dominant mutation. As a result of the genetic mutation, there is impaired erythropoiesis, leading to macrocytic red blood cells without hypersegmented neutrophils. She also read that children who survive will eventually present with short stature and craniofacial abnormalities. Which of the following is true about this patient’s condition?

A 1-year-old boy presents to pediatrics clinic for a well-child visit. He has no complaints. He has a cleft palate and an abnormal facial appearance. He has been riddled with recurrent infections and is followed by cardiology for a ventricular septal defect (VSD). Vital signs are stable, and the patient's physical exam is benign. If this patient's medical history is part of a larger syndrome, what might one also discover that is consistent with the manifestations of this syndrome?

A 3-month-old boy is brought to the physician by his mother because of poor weight gain. She also reports a dusky blue discoloration to his skin during feedings and when crying. On examination, there is a harsh, systolic murmur heard over the left upper sternal border. An x-ray of the chest shows a boot-shaped heart. Which of the following is the most likely cause of his symptoms?

An 8-year-old girl is brought to the physician by her parents for the evaluation of an episode of unconsciousness while at the playground that morning. She was unconscious for about 15 seconds and did not shake, bite her tongue, or lose bowel or bladder control. Her grandfather died suddenly at the age of 29 of an unknown heart condition; her parents are both healthy. An ECG shows sinus rhythm and a QT interval corrected for heart rate (QTc) of 470 milliseconds. Laboratory studies are within normal limits. Which of the following is the most likely additional finding in this patient?

A 2-year-old boy is brought to the emergency department after his mother noticed maroon-colored stools in his diaper. He has not had any diarrhea or vomiting. The prenatal and birth histories are unremarkable, and he has had no recent trauma. He tolerates solid foods well. The vital signs include: temperature 37.0℃ (98.6℉), blood pressure 90/60 mm Hg, pulse 102/min, and respiratory rate 16/min. The weight is at the 50th percentile. The examination revealed an alert boy with pallor. The abdomen was mildly tender at the right iliac region without masses. There were no anal fissures or hemorrhoids. A stool guaiac test was positive. The laboratory results are as follows: Complete blood count (CBC) Leukocytes 7,500/uL Hemoglobin 9 g/dL Hematocrit 24% Platelets 200,000/uL Which of the following is the most appropriate next step in the management of this patient?

An 8-year-old girl is brought to the physician for a well-child examination. Since the age of 2 years, she has had multiple fractures after minor trauma. During the past year, she has fractured the left humerus and right clavicle after falls. Her father also has a history of recurrent fractures. She is at the 5th percentile for height and 20th percentile for weight. Vital signs are within normal limits. Physical examination shows increased convexity of the thoracic spine. Forward bend test demonstrates asymmetry of the thoracolumbar region. There is a curvature of the tibias bilaterally, and the left leg is 2 cm longer than the right. There is increased mobility of the joints of the upper and lower extremities. Which of the following is the most likely additional finding?

A 25-year-old woman, gravida 2, para 1, at 36 weeks' gestation comes to the physician because of irritability, palpitations, heat intolerance, and frequent bowel movements for the last 5 months. She has received no prenatal care. Her pulse is 118/min and blood pressure is 133/80 mm Hg. She appears anxious. There is a fine tremor in the hands and ophthalmologic examination shows bilateral exophthalmos. The skin is warm and moist to touch. This patient's child is at risk for which of the following complications at birth?

A 45-day-old male infant is brought to a pediatrician by his parents with concerns of poor feeding and excessive perspiration for one week. On physical examination, his temperature is 37.7°C (99.8°F), pulse rate is 190/min, and respiratory rate is 70/min. Mild cyanosis is present over the lips, and over the nail beds. Oxygen is provided and his oxygen saturation is carefully monitored. The pediatrician orders a bedside echocardiogram of the infant. It reveals a single arterial trunk arising from 2 normally formed ventricles. The arterial trunk is separated from the ventricles by a single semilunar valve. There is a defect in the interventricular septum, and the arterial trunk overrides the defect. Which of the following congenital heart diseases can also present with similar clinical features?