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A Case of Cornelia de Lange Syndrome.

Journal of the Korean Pediatric Society 1988;31(2):282-287.
Published online February 28, 1988.
A Case of Cornelia de Lange Syndrome.
Jung Han, Soo Taek Bae, Soon Ok Byun, Ji Sub Oh
Department of Pediatrics Wallace Memorial Baptist Hospital, Busan, Korea
Cornelia de Lange 증후군
한정, 배수택, 변순옥, 오지섭
부산 왈레스기념 침례병원 소아과
Received: 25 July 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.
Key Words: Cornelia de Lange syndrome.


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