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Journal of the Korean Society of Neonatology 2007;14(2):253-257.
Published online November 1, 2007.
A Case of Cornelia de Lange Syndrome with Imperforate Anus.
Seung Hun Lee, Jae Won Jang, In Soo Kim, Won Duck Kim, Sang Geel Lee
1Department of Pediatrics, Fatima Hospital, Daegu, Korea. neogubugi@yahoo.co.kr
2Department of General Surgery, Fatima Hospital, Daegu, Korea.
항문막힘증을 동반한 Cornelia de Lange 증후군의 1례
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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.
Key Words: Cornelia de Lange syndrome; Imperforate anus


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