Document Detail


Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases.
MedLine Citation:
PMID:  12072797     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Davut Gül; Cağatay Oktenli
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  11     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2002 Jul 
Date Detail:
Created Date:  2002-06-19     Completed Date:  2002-12-04     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  183-6     Citation Subset:  IM    
Affiliation:
Department of Medical Genetics, Gülhane Military Medical Academy and Medical Faculty, Etlik, Ankara, Turkey. davutgul2001@yahoo.com
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MeSH Terms
Descriptor/Qualifier:
Adult
Consanguinity
Female
Foot Deformities, Congenital / genetics*
Genes, Recessive*
Hand Deformities, Congenital / genetics*
Humans
Male
Pedigree

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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