All issues > Volume 33(1); 1990

Original Article

J Korean Pediatr Soc. 1990;33(1):94-99. Published online January 31, 1990.

A Case of Cornelia de Lange Syndrome.

Hwa Kyoung Oh¹, Soo Jung Yoo¹, Myung Jin Kim¹, Mi Na Lee¹

¹Department of Pediatrics, Cheil General Hospital, Seoul, Korea.

Received: June 26, 1989;  Accepted: September 28, 1989.

Abstract

We have experienced a case of Cornelia de Lange syndrome in a girl of 4.5/12 years old. She showed typical features of a microbrachycephaly, hirsuitism and characteristic face with bushy eyebrows, antimongolian slant depressed nasal bridge, thin protruding lips with downtuming of the comers and the microtia. She also had severe retardation in growth and mental development. The diagnosis was established by typical clinical findings with the labaratory and radiological support. The brief review of the literature was made.

Keywords :Cornelia de Lange syndrome