A Case of Cornelia de Lange Syndrome with Imperforate Anus

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.