• Am. J. Med. Genet. A · Jul 2009

    Case Reports

    Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia.

    • Pricila Bernardi, Carla Graziadio, Rafael F M Rosa, Lisiane Dall'Agnol, Paulo R G Zen, and Giorgio A Paskulin.
    • Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre and Complexo Hospitalar Santa Casa de Porto Alegre, Porto Alegre, Brazil.
    • Am. J. Med. Genet. A. 2009 Jul 1; 149A (7): 1532-8.

    AbstractBrachyphalangy, polydactyly and tibial aplasia/hypoplasia is a rare autosomal dominant disorder. The present report represents the ninth reported case and only the second case involving a female. She had a characteristic pattern of limb anomalies including agenesis of the tibiae and bilateral preaxial polydactyly of the feet, associated with genital hypoplasia. In addition our patient had wormian bones, a lacrimal sac fistula, an ectopic kidney and an anteriorly placed anus, which are findings not previously described in this condition.

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