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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.
AuthorsA Richieri-Costa, E de Miranda, T Y Kamiya, D V Freire-Maia
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 36 Issue 1 Pg. 1-6 (May 1990) ISSN: 0148-7299 [Print] United States
PMID2333896 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple (genetics)
  • Adult
  • Child
  • Female
  • Foot Deformities, Congenital (genetics)
  • Genes, Dominant
  • Hand Deformities, Congenital (genetics)
  • Humans
  • Male
  • Pedigree
  • Syndrome
  • Tibia (abnormalities)

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