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?
- A)WAGR syndrome
- B)Patau syndrome
- C)Edwards syndrome
- D)Down syndrome
- E)Smith-Lemli-Opitz syndromeGABARITO
Explicação
The correct answer is D. Source: Kaplan USMLE Step 1 QBank — Biochemistry Test 1. Ver explicação completa e trilha adaptativa →