A Case of Cornelia de Lange Syndrome

Lee, SooWung; Park, Moo Kil; Kim, Choo Hyun; Cha, Sang Duk; Chung, Churl Young; Cho, Sung Hoon; Kim, Jung Ja; Park, Yong Whee; Cho, Chin Hee; Kim, Byoung Kie

Case Report

Journal of the Korean Pediatric Society 1974;17(4):312-320.
Published online April 30, 1974.

A Case of Cornelia de Lange Syndrome

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, Seoulï¼Œ Korea
³Department of Clinical Pathology, Catholic Medical College, Seoulï¼Œ Korea

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Abstract

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.