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The expanding panorama of split hand foot malformation

✍ Scribed by Donald Basel; Michael W. Kilpatrick; Petros Tsipouras

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
262 KB
Volume
140A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

The split hand/foot malformation is a developmental defect of the extremities resulting from errors in the initiation and maintenance of the apical ectodermal ridge. The phenotype is genetically heterogeneous, and it can be identified either as an isolated phenotypic manifestation or as a constituent component of a malformation syndrome. This overview describes the clinical phenotype, related animal models, and the evolving genetic heterogeneity of the malformation. Β© 2006 Wiley‐Liss, Inc.

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## Abstract **BACKGROUND:** Split hand foot malformation (SHFM) (cleft hand, central ray deficiency) is a highly variable malformation that shows genetic heterogeneity with at least five loci mapped to date. SHFM occurs as an isolated finding or in association with other anomalies, including congen