Renata Soares Thiele-Aguiar

Publications (1)2.39 Total impact

• Source

  Available from: Paulo A. Otto

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

  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
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  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.
  American Journal of Medical Genetics Part A 12/2008; 146A(24):3126-31. · 2.39 Impact Factor