Cornelia De Lange syndrome

Abstract

A 5.5-year-old boy is reported as a case of Cornelia De Lange syndrome. The patient had pathognomonic facies with bushy eyebrows meeting over the root of the nose, hypertelorism, antimongoloid slant of palpebral fissures, sever psychomotor retardation, hirsutism, primordial growth deficiency, marked reduction anomalies of hands with hypertension and hypoplastic gentitalia, micrognathia and normal chromosomal studies. Fetal hydantion syndrome as well as trimethadoione syndrome was ruled out. A similar case in his family was noty reported. This is the second case of Cornelia De Lange syndrome reported from Iran