De Lange syndrome : a case report

Abstract

The Dutch pediatrician Cornelia de Lange described a new syndrome of mental retardation occurring in children with a characteristic facies (de Lange, 1933). The syndrome is rare, and just over 200 cases have been mentioned in the literature (Abraham and Russell, 1968). A case study of a five year-old Maltese patient with the de Lange syndrome who also has a rare type of cyanotic congenital heart disease is presented and discussed. The patient shows considerable delay in both her mental and physical development and takes only a limited interest in her surroundings. Her speech maturation is especially defective, and she cannot produce an intelligible sound. She can barely sit up unsupported and cannot eat any solids. She rarely smiles, is easily upset when handled and frequently indulges in head banging. Diagnosis of the condition rests chiefly in recognising the combination of severe mental and physical retardation and the peculiar facies.