title: Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases.
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.
authors.affiliation: Department of Medical Genetics, Gülhane Military Medical Academy and Medical Faculty, Etlik, Ankara, Turkey. davutgul2001@yahoo.com
authors.forename: Davut
authors.initials: D
authors.lastname: Gül
authors.forename: Cağatay
authors.initials: C
authors.lastname: Oktenli
mesh_terms: D000328:Adult; D003241:Consanguinity; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree