title: Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family.
abstract: We report on 3 persons in a 3-generation Brazilian family affected with complex limb defects. The spectrum of limb anomalies ranged from isolated toe syndactyly to severe bilateral tibial aplasia. Radioulnar synostosis was present in 2 of the 3 patients. Clinical and genetic aspects are discussed.
authors.affiliation: Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, Bauru, Brazil.
authors.forename: A
authors.initials: A
authors.lastname: Richieri-Costa
authors.forename: E
authors.initials: E
authors.lastname: de Miranda
authors.forename: T Y
authors.initials: TY
authors.lastname: Kamiya
authors.forename: D V
authors.initials: DV
authors.lastname: Freire-Maia
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities*