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Autosomal dominant tibial hemimelia–polysyndactyly-triphalangeal thumbs syndrome: Report of a Brazilian family |
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| Authors: | A. Richieri-Costa E. de Miranda T. Y. Kamiya D. V. Freire-Maia |
| 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. |
| Keywords: | tibial hemimelia– polysyndactyly– triphalangeal thumbs syndrome tibial developmental field autosomal dominant inheritance |