A Case of Cornelia de Lange Syndrome with Imperforate Anus.
- Author:
Seung Hun LEE
1
;
Jae Won JANG
;
In Soo KIM
;
Won Duck KIM
;
Sang Geel LEE
Author Information
1. Department of Pediatrics, Fatima Hospital, Daegu, Korea. neogubugi@yahoo.co.kr
- Publication Type:Case Report
- Keywords:
Cornelia de Lange syndrome;
Imperforate anus
- MeSH:
Anus, Imperforate*;
Colostomy;
Cryptorchidism;
De Lange Syndrome*;
Ear;
Eyebrows;
Eyelashes;
Fistula;
Hand;
Hirsutism;
Hospitalization;
Humans;
Infant, Newborn;
Intellectual Disability;
Karyotype;
Lip;
Male;
Mouth;
Orbit;
Palate
- From:Journal of the Korean Society of Neonatology
2007;14(2):253-257
- CountryRepublic of Korea
- Language:Korean
-
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.
