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Case Report

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

Clin Exp Pediatr. 1974;17(4):312-320. Published online April 30, 1974

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,...

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