A Case of Cornelia de Lange Syndrome with Imperforate Anus.

Lee,  Seung Hun; Jang,  Jae Won; Kim,  In Soo; Kim,  Won Duck; Lee,  Sang Geel

Case Report

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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Abstract

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