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A Case of Cornelia de Lange Syndrome.

Journal of the Korean Pediatric Society 1990;33(1):94-99.
Published online January 31, 1990.
A Case of Cornelia de Lange Syndrome.
Hwa Kyoung Oh, Soo Jung Yoo, Myung Jin Kim, Mi Na Lee
Department of Pediatrics, Cheil General Hospital, Seoul, Korea.
Cornelia de Lange 증후군 1례
오화경, 유수정, 김명진, 이미나
제일병원 소아과
Received: 26 June 1989   • Accepted: 28 September 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.
Key Words: Cornelia de Lange syndrome


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