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?

  1. A)WAGR syndrome
  2. B)Patau syndrome
  3. C)Edwards syndrome
  4. D)Down syndrome
  5. 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 →

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