All issues > Volume 31(2); 1988

Original Article

J Korean Pediatr Soc. 1988;31(2):282-287. Published online February 28, 1988.

A Case of Cornelia de Lange Syndrome.

Jung Han¹, Soo Taek Bae¹, Soon Ok Byun¹, Ji Sub Oh¹

¹Department of Pediatrics Wallace Memorial Baptist Hospital, Busan, Korea

Received: July 25, 1987;

Abstract

The Cornelia de Lange syndrome is characterized by severe growth and mental retardation, typical face, and low-pitched, weak, growling cry, as was first described by Cronelia de Lange in 1933. We have recognized a case of Cornelia de Lange syndrome in a 4 month old Korean girl. The patient showed typical appearance of face with low forehead, bushy eyebrows and synophrys, long curly eyelases, small nose and anteverted nostrils, thin protruding lips with downturing of the comers, microcephaly, micrognathia, low set ears, generalized hirsutism and growth retardation as well as low pitched growling cry. The patient has normal karyotype, skeletal abnormalities of hands and ribs and malrotated colon by autopsy. The patient died from dehydration and pneumonia on 4th admission day. A brief review of literature was made.

Keywords :Cornelia de Lange syndrome.