A newborn is examined immediately after an induced vaginal delivery for fetal growth retardation. On visual inspection, the infant has low-set ears, a small mandible, and a prominent occiput. The neonate has a weak cry and increased tone of the extremities, including clenched hands with second and fifth digits on top of the third and fourth digits. Cardiac auscultation reveals a harsh, IV/VI holosystolic murmur heard best at the left sternal border. The infant is transferred to the neonatal intensive care unit for further workup and management. Which of the following is the most likely chromosomal abnormality in this infant?

Question

A newborn is examined immediately after an induced vaginal delivery for fetal growth retardation.  On visual inspection, the infant has low-set ears, a small mandible, and a prominent occiput.  The neonate has a weak cry and increased tone of the extremities, including clenched hands with second and fifth digits on top of the third and fourth digits.  Cardiac auscultation reveals a harsh, IV/VI holosystolic murmur heard best at the left sternal border.  The infant is transferred to the neonatal intensive care unit for further workup and management.  Which of the following is the most likely chromosomal abnormality in this infant?

Quizplus · Accepted Answer

Eductional Objective: Trisomy 18, or Edwards syndrome, is most commonly the result of meiotic nondisjunction due to advanced maternal age.  Key findings include fetal growth retardation, hypertonia (clenched hands with overlapping fingers), rocker bottom feet, and cardiac/gastrointestinal/renal defects.

A Newborn Is Examined Immediately After an Induced Vaginal Delivery