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Tibial hemimelia-split hand/foot syndrome, report of a brazilian family

A. Richieri-Costa

Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, Caixa Postal 620, 17043 Bauru, SP, Brasil

ABSTRACT

We report on a Brazilian family with 7 affected patients through 2 generations presenting the tibial hemimelia-split hand/foot syndrome. The main clinical signs in different patients ranged from isolated ectrodactyly to bilateral tibial hemimelia-unilateral ectrodactyly. Clinical and genetical aspects concerning this condition are discussed.

Keywords: tibial; hemimelia-split; hand/foot; syndrome.

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