Approach to aneuploidies and microdeletions Quiz: Ace Your Exams

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A 1-hour-old newborn delivered at 38 weeks’ gestation is evaluated in the nursery. Delivery was uneventful with Apgar scores of 7 and 8 at 1 and 5 minutes, respectively. The parents are recent immigrants, and the mother did not have any prenatal care. No fever, rash, vomiting, or diarrhea were reported during the pregnancy. Family history is non-contributory. Temperature is 37°C (98.6°F), pulse is 140/min, respirations are 30/min, blood pressure is 65/36 mmHg, and oxygen saturation is 99% on room air. Weight and height are at the 10th percentile, with head circumference at the 5th percentile for age. On physical examination, microcephaly, low-set ears, micrognathia, and wide-spaced nipples are noted. Clenched fists and rocker-bottom feet are seen. A holosystolic murmur is heard. Pulmonary and abdominal exams are unremarkable. Which of the following is the most likely diagnosis?

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