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Congenital Duplication of the Palm Syndrome: Gene Analysis and the Molecular Basis of its Clinical Features
Journal article   Peer reviewed

Congenital Duplication of the Palm Syndrome: Gene Analysis and the Molecular Basis of its Clinical Features

M. M. AL-QATTAN, M. AL-BALWI, W. Eyaid, I. AL-ABDULKARIM and S. AL-TURKI
The Journal of hand surgery, European volume, Vol.34(2), pp.247-251
01/04/2009
PMID: 19282404

Abstract

Congenital duplication of the palm is a rare syndrome with the following features: the dorsal aspects of both hands have thick palmar skin with no hair or nails; bilateral ulnar ray deficiency; short hypoplastic upper limbs; and severe lower limb abnormalities. In this paper, we report a new case of congenital duplication of the palm syndrome, provide its gene analysis identifying the responsible gene mutation in exon 4 of the WNT7a gene, and detail the molecular basis of its clinical features.

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