EPOS

European Paediatric Ophthalmological Society

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A Case of Patau Syndrome with Congenital Ocular Anomaly

La Tae-Yoon ¹, Lee Young-Choon ¹, Sim Jae-Ok ^1
1Department of Ophthalmology, College of Medicine, The Catholic University of Korea

Purpose:To report a case of newborn infant with Patau syndrome who showed typical ocular and systemic anomalies. Methods:We examined systemic anomalies in newborn infant who were suspected to be Patau syndrome before she died in a month. Also We enucleated and inspected the eye of the dead patient. Results:In enucleated eye, we could find micro-ophthalmia, microcornea, corneal opacity, iris coloboma, cataract, dislocated lens, spherophakia, retinal fold and dysplasia. Also systemically,we could find polydactyly of foot, simian crease in hand, cebocephaly, cleft lip and palate, flattened nose without nostril, malformed low set ears, narrow palpebral fissure, sloping forehead, polycystic kidney with hydronephrosis, holoprocencephaly, cardiac valvular abnormality. Conclusion: Patau syndrome, a trisomy of number 13 chromosome, is a rare congenital chromosomal anomaly accompanying many abnormalities of cardiovascular and central nervous system, kidney and extremity, face and eye. In a newborn infant with this syndrome, we could have opportunity to experience nearly all typical anomaly which can be present in this syndrome.