A Case of Patau Syndrome with Congenital Ocular Anomaly.
- Author:
Tae Yoon LA
1
;
Sung Mi KIM
;
Ja Young LEE
Author Information
1. Department of Ophthalmology, St. Vincents Hospital, The Catholic University of Korea, Suwon.
- Publication Type:Original Article
- Keywords:
Ocular anomalies;
Patau syndrome;
13 Trisomy
- MeSH:
Cataract;
Central Nervous System;
Coloboma;
Corneal Opacity;
Extremities;
Humans;
Infant, Newborn;
Iris;
Kidney;
Microphthalmos;
Trisomy
- From:Journal of the Korean Ophthalmological Society
1997;38(5):884-889
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Patau syndrome, a trisomy of number 13 chromosome, is a rare congenital chromosomal anomaly accompaing many abnormalities of cardiovascular and central nervous system, kidney and extremity, face and eye. We experienced a case of Patau syndrome in newborn infant who had bilateral microphthalmia, microcornea, corneal opacity, iris coloboma, cataract, dislocated lens, spherophakia, retianl fold and dysplasia, which are typical ocular anomalies of this syndrome previously described overseas but not reported in domestic. So, we report this case with a review of the literatures.
