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Exam questionKROK 2Medicine ยท 2025

Examination of a one-month-old child detects microphthalmia, microcephaly, hypotelorism, bilateral cleft lip and palate, polydactyly, and a ventricular septal defect. Genetic studies revealed trisomy 13. What is the most likely diagnosis in this case?

Answer options

  1. Down syndrome
  2. Arnold-Chiari syndrome
  3. Roberts syndrome
  4. Patau syndrome
  5. Lejeune syndrome
Correct answer

Patau syndrome

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