The de Lange syndrome. Report of 15 cases.
Fifteen cases of the de Lange syndrome are presented. Personal and family histories, clinical features, detailed radiological findings, laboratory data, chromosome studies and dermatoglyphic patterns are reported. A Negro patient and his autopsy findings are described. Radiological diagnostic features are stressed; in particular, the combined presence of a hypoplastic middle phalanx of the index fingers and variable short metatarsal appear to be two additional features which are diagnostically helpful. The etiology of the syndrome is unknown; however, there is some evidence to suggest a genetic basis. The literature is briefly reviewed.
Department of Medicine, Johns Hopkins University School of Medicine, Johns Hopkins Hospital, Baltimore, Maryland.
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Filippi
D000328:Adult; D001344:Autopsy; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003635:De Lange Syndrome / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D003878:Dermatoglyphics; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011859:Radiography