Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family.
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.
Richieri-Costa
A
A
Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, Bauru, Brazil.
de Miranda
E
E
Kamiya
T Y
TY
Freire-Maia
D V
DV
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*