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

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...

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Bibliographic Details
Published in:Journal of Hand Surgery 2009-04, Vol.34 (2), p.247-251
Main Authors: AL-QATTAN, M. M., AL-BALWI, M., EYAID, W., AL-ABDULKARIM, I., AL-TURKI, S.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
Child, Preschool
Diseases of the osteoarticular system
DNA Mutational Analysis
Hand Deformities, Congenital - genetics
Humans
Male
Medical sciences
Mutation
Syndrome
Ulna - abnormalities
Wnt Proteins - genetics
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Summary: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.
ISSN:1753-1934
2043-6289
1532-2211
DOI:10.1177/1753193408099828