Definition (Am J Med Genet A 2006;140:1749; Nelson Textbook of Pediatrics, 17th ed.)
• Patau syndrome
• 0.85:10,000 live births, large percentage terminated before birth
• Death frequently in 1st mo of life
• Clinical manifestations: Cleft lip, polydactyly, low-set ears, holoprosencephaly, microphthalmia, cardiac defects, absent ribs, visceral and genital anomalies