How to cite this article: Santos SC, Pardono E, Ferreira da Costa MI, de Melo AN, Graciani Z, de Albuquerque e Souza AC, Lezirovitz K, Thiele-Aguiar RS, Mingroni-Netto RC, Opitz JM, Kok F, Otto PA. 2008. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia and other defects. Am J Med Genet Part A 146A:3126–3131.
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects†
Version of Record online: 14 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 24, pages 3126–3131, 15 December 2008
How to Cite
Santos, S. C., Pardono, E., Ferreira da Costa, M. I., de Melo, A. N., Graciani, Z., de Albuquerque e Souza, A. C., Lezirovitz, K., Thiele-Aguiar, R. S., Mingroni-Netto, R. C., Opitz, J. M., Kok, F. and Otto, P. A. (2008), A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects. Am. J. Med. Genet., 146A: 3126–3131. doi: 10.1002/ajmg.a.32580
- Issue online: 21 NOV 2008
- Version of Record online: 14 NOV 2008
- Manuscript Accepted: 4 SEP 2008
- Manuscript Received: 23 APR 2008
- Conselho Nacional de Desenvolvimento Científico e Tecnológico. Grant Number: CNPq 408827/2006-8
- new genetic syndrome;
- fibular agenesis/hypoplasia;
- nail hypoplasia/anonychia;
- oligodactylous clubfeet
We describe an apparently new genetic syndrome in six members of a family living in a remote area in Northeastern Brazil. This syndrome comprises: short stature due to a marked decrease in the length of the lower limbs (predominantly mesomelic with fibular agenesis/marked hypoplasia), grossly malformed/deformed clubfeet with severe oligodactyly, upper limbs with acromial dimples and variable motion limitation of the forearms and/or hands, severe nail hypoplasia/anonychia sometimes associated with mild brachydactyly and occasionally with pre-axial polydactyly. This syndrome is apparently distinct from the syndrome of brachydactyly-ectrodactyly with fibular aplasia or hypoplasia (OMIM 113310), the syndrome of fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly (OMIM 228930), and from other previously described conditions exhibiting fibular agenesis/hypoplasia. © 2008 Wiley-Liss, Inc.