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KMID : 0367419760170040048
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Journal of Korean Pediatric Society
1976 Volume.17 No. 4 p.48 ~ p.56
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A Case of Cornelia de Lange Syndrome
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이수웅/Lee, Soo Wung
박무길/김주현/차상덕/정철영/조성훈/김정자/Park, Moo Kil/Kim, Choo Hyun/Cha, Sang Duk/Chung, Churl Young/Cho, Sung Hoon/Kim, Jung Ja
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Abstract
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We have experienced a case of Cornelia de Lange syndrome in 21 day old female.
She showed typical clinical features of a microbrachycephaly, hirsutism and characteristic face
with low forehead bushy eyebrows, antimongolian slant, large and depressed bridge of nose, thin. 1 protruding lips with downturning of the corners and micrognathia.
She had also skeletal, dermatoglyphic and chromosomal abnormalities.
The diagnosis was established by clinical, laboratory and X-ray findings. A Brief summary of autopsy findings are presented and the pertinent lituratures are reviewed briefly.
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KEYWORD
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