How to cite this article: Bernardi P, Graziadio C, Rosa RFM, Dall'Agnol L, Zen PRG, Paskulin GA. 2009. Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia. Am J Med Genet Part A 149A:1532–1538.
Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia†
Article first published online: 16 JUN 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 7, pages 1532–1538, July 2009
How to Cite
Bernardi, P., Graziadio, C., Rosa, R. F.M., Dall'Agnol, L., Zen, P. R.G. and Paskulin, G. A. (2009), Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia. Am. J. Med. Genet., 149A: 1532–1538. doi: 10.1002/ajmg.a.32943
- Issue published online: 18 JUN 2009
- Article first published online: 16 JUN 2009
- Manuscript Accepted: 22 APR 2009
- Manuscript Received: 19 AUG 2008
- tibial aplasia;
- foot polydactyly;
- genital 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. © 2009 Wiley-Liss, Inc.