A Case of Patau Syndrome with Congenital Ocular Anomalies

Abstract

Purpose: We report a case of bilateral congenital ocular anomaly in a patient with trisomy 13.Case summary: A newborn born with a gestational period of 38 weeks was transferred to the hospital's neonatal intensive care unit due to cyanosis. The patient was referred to an ophthalmologist for examination of associated ocular anomalies as systemic evaluation revealed of cleft palate, polydactylosis, congenital heart disease, and hydronephrosis. Afterwards, Iris coloboma and congenital cataract at nasal side, iris-lens synechia were noticed in both eyes. Patau syndrome was diagnosed as a regular trisomy 13 on chromosome examination.Conclusions: In patients with ophthalmic malformations such as iris coloboma and congenital cataracts accompanying systemic anomalies, chromosome test may be required to discriminate trisomy.