A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

Abstract

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.

• Authors: Silvana C Santos, Eliete Pardono, Maria Ione Ferreira da Costa, Aurea Nogueira de Melo, Zodja Graciani, Alessandra Cavalcanti de Albuquerque e Souza, Karina Lezirovitz, Renata Soares Thiele-Aguiar, Regina Célia Mingroni-Netto, John M Opitz, Fernando Kok, Paulo A Otto
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 146A Issue 24 Pg. 3126-31 (Dec 15 2008) ISSN: 1552-4833 [Electronic] United States
• PMID: 19012338 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright (c) 2008 Wiley-Liss, Inc.

Topics

• Aged
• Brazil
• Child
• Clubfoot (complications, diagnostic imaging)
• Congenital Abnormalities (diagnostic imaging, pathology)
• Female
• Fibula (abnormalities, diagnostic imaging)
• Geography
• Humans
• Male
• Middle Aged
• Nails, Malformed (complications, diagnostic imaging)
• Pedigree
• Radiography
• Syndrome