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    
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.
Davut Gül; Cağatay Oktenli
Related Documents :
22001467 - Neurally mediated syncope associated with small cell lung cancer: a case report and rev...
19365307 - Familial mediterranean fever and multiple sclerosis--a case report.
1938857 - Supravalvar aortic stenosis secondary to familial hypercholesterolaemia. report of two ...
7922467 - A study of hereditary essential tremor.
6967957 - False-negative gallbladder scintigram in acute cholecystitis.
12353307 - Occurrence of acute monocytic leukemia in a case of untreated waldenström's macroglobul...
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    
Department of Medical Genetics, Gülhane Military Medical Academy and Medical Faculty, Etlik, Ankara, Turkey.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Foot Deformities, Congenital / genetics*
Genes, Recessive*
Hand Deformities, Congenital / genetics*

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

Previous Document:  A severe case of oculo-ectodermal syndrome?
Next Document:  Microgastria-limb reduction anomaly with total amelia.