All issues > Volume 26(6); 1983

Case Report

J Korean Pediatr Soc. 1983;26(6):616-621. Published online June 30, 1983.

A Case of Cornelia De Large Syndrome.

Do Seung Lee¹, Dae Young Hwang¹, Jeong Sick Min¹, Jae Sun Park¹

¹Department of Pediatrics, Kosin Medical College，Gospel Hospital，Busant Korea

Abstract

We have experienced a case of1 Cornelia de Lange Syndrome in a male infant. At first visit, the patient showed typical appearance of microcephaly, cleft palate, generalized hirsutism and growth retardation due to poor sucking since birth. The face of the patient was characterized by micrognathia, antirrongolism slant of eyes, synorphys of eye brows, bushy forehead and bushy lateral aspect of both cheeks, all of which were compatible with Cornelia de Lange Syndrome. The baby died at age of 55 day due to feeding disorder after discharge. Chromosomal study was unavailable. A brief review of literature was made.

Keywords :Cornelia de Lange Syndrome.