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KMID : 0378019900330090073
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New Medical Journal
1990 Volume.33 No. 9 p.73 ~ p.76
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A case of Cornelia de Lange Syndrome
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이정희/Lee, Jung Hee
지영미/성인경/이병철/Ji, Yeong Mi/Sung, In Kyung/Lee, Byung Churl
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Abstract
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We experienced a case of Cornelia de Lange syndrome in one-day-old female neonate. She showed most of the typical features of the syndrome, microbrachycephaly, hirsuitism, busy eyebrows and synorphys, low pitched growling cry. Also she had multiple hemangioma of the skin, club foot deformity and stenosis of both lacrimal ducts. Her karyotype was normal 46, XX and there was no family history of this syndrome.
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KEYWORD
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FullTexts / Linksout information
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Listed journal information
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