Autosomal trisomies Quiz: Ace Your Exams

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A 1-hour-old infant girl is brought to the nursery for evaluation. She was born via normal vaginal delivery at 38 weeks gestation to a 40-year-old woman. The infant’s mother did not receive prenatal care. Family history is unremarkable for hereditary disorders. Vitals are within normal limits. Physical examination shows a single crease on both palms, a gap between the first two toes and prominent epicanthal folds. An abnormal harsh holosystolic murmur is heard at the lower left sternal border on auscultation of heart. Lungs are clear to auscultation bilaterally. This child is at increased risk of developing which of the following features in the future?

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Easy bruising and recurrent infections

Local bone pain and swelling of the long bones

Unilateral abdominal mass, hypertension and hematuria

Rapid, multi-directional eye movements and quick, involuntary muscle jerks

Renal mass, facial angiofibromas, ash leaf spots, and shagreen patches