We studied the abnormal ocular and systemic findings in one case of true triploidy and two cases of triploid mosaicism. A liveborn triploid child 69,XXY, had abnormalities including cebocephaly, a single midline nostril, incomplete cleft palate, transverse palmar creases, partial syndactyly, and
A Turkish patient with cobblestone lissencephaly and eye involvement without characteristic muscular changes for congenital muscular dystrophy died at the age of 3 months presented with neonatal apneic periods and generalized seizures. Serum creatine kinase level, electromyography, chromosome