American journal of medical genetics. Part A
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Am. J. Med. Genet. A · Jul 2009
Case ReportsAdditional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia.
Brachyphalangy, 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.