The Cornelia de Lange syndrome: a study of 9 affected individuals.
Nine children with the Cornelia de Lange syndrome have been examined and investigated. Prominent among the clinically important features are retarded physical and mental development, limb malformation and limited life expectancy. Early diagnosis is important for prognostication and management, and is based on the recognition of the combination of the stigmata and typical facial characteristics.
D000293:Adolescent; D000328:Adult; D002648:Child; D003635:De Lange Syndrome / Q000175:diagnosis / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male