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

Am J Med Genet A. 2009 Jul;149A(7):1532-8. doi: 10.1002/ajmg.a.32943.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Ear / abnormalities
  • Female
  • Foot Deformities / complications
  • Foot Deformities / diagnosis*
  • Humans
  • Infant
  • Polydactyly / complications*
  • Tibia / abnormalities*
  • Urogenital Abnormalities / complications
  • Urogenital Abnormalities / diagnosis