J Korean Ophthalmol Soc.  1997 May;38(5):884-889.

A Case of Patau Syndrome with Congenital Ocular Anomaly

Affiliations
  • 1Department of Ophthalmology, St. Vincents Hospital, The Catholic University of Korea, Suwon.

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.

Keyword

Ocular anomalies; Patau syndrome; 13 Trisomy

MeSH Terms

Cataract
Central Nervous System
Coloboma
Corneal Opacity
Extremities
Humans
Infant, Newborn
Iris
Kidney
Microphthalmos
Trisomy
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