Metabolism USMLE Step 1 Practice Question
A 2-day-old male neonate presents with microcephaly, micrognathia, cleft palate, ambiguous genitalia, and syndactyly of the second and third toes bilaterally. Vital signs show HR 145/min, RR 38/min, temp 36.8°C. Laboratory findings reveal elevated plasma very long-chain fatty acids and normal ammonia levels. The infant has not experienced seizures. Which of the following is the most likely diagnosis?
Answer choices
- AWAGR syndrome
- BPatau syndrome
- CEdwards syndrome
- DDown syndrome
- ESmith-Lemli-Opitz syndromeCorrect answer
- FAdrenoleukodystrophy
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