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Pubmed for Handhelds

PUBMED FOR HANDHELDS

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  • Title: Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases.
    Author: Gül D, Oktenli C.
    Journal: Clin Dysmorphol; 2002 Jul; 11(3):183-6. PubMed ID: 12072797.
    Abstract:
    Split hand and foot malformation syndrome (SHFM) is characterized by the absence of the central digital rays, deep median cleft, and syndactyly of the remaining digits. The majority of the familial cases are inherited in an autosomal dominant manner. Here we report on nine cases of SHFM in an inbred kindred. A variable intrafamilial expression of the malformation pattern is apparent. Autosomal recessive inheritance and a two-locus model are discussed.
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