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KMID : 0438520070140020253
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Journal of the Korean Society of Neonatology
2007 Volume.14 No. 2 p.253 ~ p.257
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A Case of Cornelia de Lange Syndrome with Imperforate Anus
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Lee Seung-Hun
Jang Jae-Won
Kim In-Soo
Kim Won-Duck
Lee Sang-Geel
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Abstract
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Cornelia de Lange syndrome is characterized by severe growth and mental retardation, characteristic face, and a low-pitched, weak, growling cry, which was first described by Cornelia de Lange in 1933. We have recognized Cornelia de Lange syndrome with imperforate anus in a male neonate. The patient had the typical facial appearance: micrognathia, confluent eyebrows, long curly eyelashes, underdeveloped orbital arches, long philtrum, thin lip, downturned angles of the mouth, anteverted nares, low-set ears, high-arched palate, and generalized hirsutism. His karyotype was normal, but skeletal abnormalities of the hands, cryptorchism, and imperforate anus with rectourethral fistula. A colostomy was performed on the third day of hospitalization.
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KEYWORD
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Cornelia de Lange syndrome, Imperforate anus
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