| Literature DB >> 2758687 |
Abstract
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.Entities:
Mesh:
Year: 1989 PMID: 2758687 DOI: 10.1111/j.1399-0004.1989.tb02955.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438