Split-hand/feet malformation: A rare syndrome.
case_report · Level V
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- Record sourced from PubMed, PMID 27453866.
- Also identified by DOI 10.4103/2249-4863.184656 and PMC identifier PMC1050214.
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Abstract
Split-hand/split-foot malformation (SHFM) is mainly inherited as an autosomal dominant trait with incomplete penetrance and characterized by malformation of the limb involving the central rays of the autopod. It presents with a deep median cleft of the hand and/or foot, aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. Pathogenic mechanism is a failure to maintain signaling from the median apical ectodermal ridge. Without this signaling, cells of the underlying progress zone stop proliferation and differentiation which in turn results in defects of the central rays. We describe a case of SHFM in 10-year-old boy.