RESUMO

Werner in 1915, described a patient is characterized by a tibial bilateral aplasia or hypoplasia, polydactyly and absent thumbs. Autosomal dominant inheritance is demonstrated, with variable expressivity. The objective of this work is to describe a child with clinic and radiologic signs of Tibial Hypoplasia with Polydactyly. The genealogic study allowed us to suppose that the gene has a variable expressivity, since in the maternal branch, malformations such as syndactyly of hands, proximal implantation of thumbs and tibiae vara, have been found. The clinic, radiologic, and genetic aspects are discussed.

Assuntos

Anormalidades Múltiplas/genética , Polidactilia/genética , Polegar/anormalidades , Tíbia/anormalidades , Feminino , Deformidades Congênitas do Pé/genética , Luxação Congênita de Quadril/genética , Humanos , Recém-Nascido , Linhagem , Estenose Pilórica/congênito , Sindactilia/genética , Venezuela