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A Case of Cornelia de Lange syndrome.

Journal of the Korean Pediatric Society 1990;33(2):234-240.
Published online February 28, 1990.
A Case of Cornelia de Lange syndrome.
Byoung Hong Ahn, Song Nyeon Choi, Young Wook Kim, Ki Bok Kim
Department of Pediatrics, Kwangju Christian Hospital, Kwangju, Korea
Cornelia de Lange 증후군의 1례
안병홍, 최송년, 김용욱, 김기복
광주 기독병원 소아과
Received: 22 June 1989   • Accepted: 19 September 1989
Abstract
We have experienced a case of Cornelia de Lange syndrome in a 3-year-old boy. The patient showed most of the typical clinical features of the syndrome: microcephaly, bushy eyebrows and synophys, antimongolian slant, small nose and anteverted nostrils, thin protruding lips with downturning of the comer, micrognathia, low set ears, generalized hirsuitism, and growth redardation. The patient also had skeletal abnormalities of hands. Chromosomal analysis revealed abnormal- ities in chromosome 3(46, XY, 3q2, trisomy).
Key Words: Cornelia de Lange syndrome


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