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  • Title: Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family.
    Author: Richieri-Costa A, de Miranda E, Kamiya TY, Freire-Maia DV.
    Journal: Am J Med Genet; 1990 May; 36(1):1-6. PubMed ID: 2333896.
    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.
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