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A Case of Cornelia De Large Syndrome.

Journal of the Korean Pediatric Society 1983;26(6):616-621.
Published online June 30, 1983.
A Case of Cornelia De Large Syndrome.
Do Seung Lee, Dae Young Hwang, Jeong Sick Min, Jae Sun Park
Department of Pediatrics, Kosin Medical College,Gospel Hospital,Busant Korea
Cornelia de Lange 증후군의 1례
이도승, 황대영, 민정식, 박재선
고신대학의학부 부속 부산복음병원 소아과학교실
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.
Key Words: Cornelia de Lange Syndrome.


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