title: Hypoplastic synpolydactyly as a new clinical subgroup of synpolydactyly.
abstract: A large kindred which was first described in 1995 was investigated again. We present the clinical, radiological, genetic and surgical findings of the hand deformities found in homozygote individuals which we called "hypoplastic synpolydactyly". There were 125 affected (heterozygote or homozygote) people out of 245 subjects in the five last generations. We identified seven marriages of two affected people. Twelve offsprings, of these marriages had a homozygote genetic pattern and "hypoplastic synpolydactyly". From both the clinical and surgical perspectives, their hand deformity was distinctive from that of their parents. We surgically treated both hands of three individuals with this deformity. The hand deformity of these homozygotes was so complicated and distinctive that it can be evaluated as a new subgroup of synpolydactyly.
authors.affiliation: Orthopedics Department, Medical School of Kocatepe University, Afyon, Turkey. ikuru@isnet.net.tr
authors.forename: Ilhami
authors.initials: I
authors.lastname: Kuru
authors.forename: Hale
authors.initials: H
authors.lastname: Samli
authors.forename: Aylin
authors.initials: A
authors.lastname: Yucel
authors.forename: M Eray
authors.initials: ME
authors.lastname: Bozan
authors.forename: Seval
authors.initials: S
authors.lastname: Turkmen
authors.forename: Mustafa
authors.initials: M
authors.lastname: Solak
mesh_terms: D001864:Bone Wires; D002648:Child; D002675:Child, Preschool; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery*; D020440:Gene Duplication; D006720:Homozygote; D006801:Humans; D007103:Immobilization; D008297:Male; D010375:Pedigree; D039102:Poly(A)-Binding Proteins / Q000235:genetics; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D011859:Radiography; D013524:Surgical Flaps; D013576:Syndactyly / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*
chemical_list: D039102:Poly(A)-Binding Proteins