| A Case of Cornelia de Lange Syndrome |
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SooWung Lee1, Moo Kil Park1, Choo Hyun Kim1, Sang Duk Cha1, Churl Young Chung1, Sung Hoon Cho1, Jung Ja Kim2, Yong Whee Park2, Chin Hee Cho3, Byoung Kie Kim3 |
1Department of Pediatrics, Catholic Medical College, Seoul, Korea
2Departmentof Radiology, Catholic Medical College, Seoul， Korea
3Department of Clinical Pathology, Catholic Medical College, Seoul， Korea |
| Cornelia de Lange 증후군 |
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이수웅1, 박무길1, 김주현1, 차상덕1, 정철영1, 조성훈1, 김 정 자2, 박 용 휘2, 조 진희3, 김 병 기3 |
1가톨릭의대 소아과학교실
2가톨릭의대 방사선학교실
3가톨릭의대 임상병리학교실 |
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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 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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