| 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 |
|
PDF Links
Download Citation
