The de Lange syndrome. Report of 15 cases
- 28 June 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 35 (5) , 343-363
- https://doi.org/10.1111/j.1399-0004.1989.tb02955.x
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 literaure is briefly reviewed.Keywords
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