Congenital defects — MCQs

A 9-month-old female infant is brought in by her mother to the pediatrician because she is concerned that her daughter is not growing normally. On physical exam, the head circumference is 95th percentile and the height is 5th percentile. The child has disproportionate growth such that both the upper and lower extremities show a rhizomelic pattern of shortening, but the axial skeleton appears to be normal. The child appears to have normal intelligence, but has delayed motor milestones; specifically, she is not able to roll or sit up by herself. Which of the following best describes the mode of inheritance for this disorder?

A 17-year-old boy is brought to the pediatrician by his mother for an initial visit. He recently immigrated from Cambodia. Through an interpreter, the patient reports 6 months of mild exertional dyspnea. He denies chest pain or palpitations. His medical history is unremarkable and he has never had any surgeries. His family history is significant for hypertension and diabetes. His father died of tuberculosis. The patient’s vaccination history is unknown. His temperature is 98°F (36.7°C), blood pressure is 113/71 mmHg, and pulse is 82/min. His BMI is 24 kg/m^2. Physical examination shows a well-nourished, cooperative boy without any grossly dysmorphic features. Cardiac auscultation reveals a grade II systolic ejection murmur along the left upper sternal border and a mid-diastolic rumble along the left sternal border. S1 is normal and the splitting of S2 does not change with inspiration. Which of the following is the most likely diagnosis?

An 11-month-old boy is brought to the emergency department because of intermittent episodes of inconsolable crying for 4 hours. The parents report that the patient does not appear to be in discomfort between episodes, and moves and plays normally. The episodes have occurred at roughly 15-minute intervals and have each lasted a few minutes before subsiding. He has also vomited 3 times since these episodes began. The first vomitus appeared to contain food while the second and third appeared pale green in color. The patient was born at term and has been healthy. His immunizations are up-to-date. He has no history of recent travel. His older brother has Crohn's disease. The patient is at 50th percentile for height and 60th percentile for weight. He does not appear to be in acute distress. His temperature is 37.1°C (98.8°F), pulse is 125/min, respirations are 36/min, and blood pressure is 85/40 mm Hg. During the examination, the patient begins to cry and draws his knees up to his chest. Shortly thereafter, he passes stool with a mixture of blood and mucous; the patient's discomfort appears to resolve. Abdominal examination shows a sausage-shaped abdominal mass in the right upper quadrant. Which of the following is the most appropriate next step in the management of this patient?

A 18-year-old male presents to his primary care provider with his parents for a sports physical. He was last seen in clinic several months ago, when he was diagnosed with attention deficit hyperactivity disorder (ADHD). He was started on methylphenidate at that time, and the patient now reports improvement in his ability to concentrate in school and at home. He hopes to play baseball in college and has begun lifting weights daily in preparation for baseball season. The patient reports that he eats a healthy diet to fuel his exercise regimen. His parents have no concerns and are pleased with the recent improvement in his grades. On physical exam, the patient has tall stature with average muscle mass for his age. He has no dysmorphic features. His chest has a normal appearance other than mild gynecomastia. The patient has sparse facial hair and a moderate amount of coarse pubic hair that extends across the pubis and spares the medial thighs. His testes are small and firm. Due to the latter, laboratory testing is performed and reveals the following: Follicle-stimulating hormone (FSH): 42 mIU/mL (Reference range: 4-25 mIU/mL) Luteinizing hormone (LH): 38 mIU/mL (Reference range: 6-23 mIU/mL) Which of the following is the most likely etiology of this patient’s presentation?

A 3-year-old girl is brought to her pediatrician with 2 days of fever and abdominal pain. She has also been crying and complaining of pain while urinating. She was born at term without incident and was previously healthy at regular checkups. On presentation, her temperature is 102.2°F (39°C), blood pressure is 137/85 mmHg, pulse is 122/min, and respirations are 24/min. Physical exam reveals a palpable, painless, abdominal mass that does not cross the midline. Which of the following additional findings would be associated with this patient's disorder?

A 4700-g (10.3-lb) male newborn is delivered at 37 weeks' gestation to a 30-year-old woman, gravida 2, para 1. Apgar scores are 7 and 8 at 1 and 5 minutes, respectively. The newborn appears pale. Temperature is 37°C (98.6°F), pulse is 180/min, and blood pressure is 90/60 mm Hg. Examination in the delivery room shows midfacial hypoplasia, infraorbital creases, and a large tongue. The right side of the body is larger than the left. Abdominal examination shows that the abdominal viscera protrudes through the abdominal wall at the umbilicus; the viscera are covered by the amniotic membrane and the peritoneum. The liver is palpated 2–3 cm below the right costal margin. Fingerstick blood glucose concentration is 60 mg/dL. Ultrasonography of the abdomen shows enlarged kidneys bilaterally. In addition to surgical closure of the abdominal wall, which of the following is the most appropriate next step in management?

A 6-week-old boy is brought for routine examination at his pediatrician’s office. The patient was born at 39 weeks to a 26-year-old G1P1 mother by normal vaginal delivery. External cephalic version was performed successfully at 37 weeks for breech presentation. Pregnancy was complicated by gestational diabetes that was well-controlled with insulin. The patient’s maternal grandmother has early onset osteoporosis. On physical examination, the left hip dislocates posteriorly with adduction and depression of a flexed femur. An ultrasound is obtained that reveals left acetabular dysplasia and a dislocated left femur. Which of the following is the next best step in management?

A 3-year-old boy is brought to the physician because of recurrent nosebleeds and fatigue for the past 2 months. He also frequently complains his head hurts. The patient has met all motoric milestones for his age but does not like to run because his legs start to hurt if he does. He is at the 40th percentile for both height and weight. His temperature is 37.0°C (98.6°F), pulse is 125/min, respirations are 32/min, and blood pressure in the right arm is 130/85 mm Hg. A grade 2/6 systolic murmur is heard in the left paravertebral region. Further evaluation of this patient is most likely to show which of the following findings?

A 5-year-old girl is brought to the emergency department after drinking a bottle of drain cleaner. It is unknown how much the child drank. She has a past medical history of Down syndrome and obesity. The patient's vitals are unremarkable. Physical exam is notable for a child in no acute distress. She is tolerating her oral secretions and interactive. Inspection of the oropharynx is unremarkable. Which of the following is appropriate management of this patient?

A 2-year-old girl presents to the emergency department with a 3-minute episode of a tonic-clonic seizure. The parents deny any previous history of seizure involving the patient or the family. Physical examination reveals an afebrile, well-groomed, and playful appearance, with normal vital signs. The patient carries a pink birthmark on the right side of her face extending from the forehead to the zygomatic arch. Which of the following findings is most likely on a head CT of this patient?