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A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects
Author(s) -
Santos Silvana C.,
Pardono Eliete,
Ferreira da Costa Maria Ione,
de Melo Aurea Nogueira,
Graciani Zodja,
de Albuquerque e Souza Alessandra Cavalcanti,
Lezirovitz Karina,
ThieleAguiar Renata Soares,
MingroniNetto Regina Célia,
Opitz John M.,
Kok Fernando,
Otto Paulo A.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32580
Subject(s) - brachydactyly , hypoplasia , aplasia , medicine , anatomy , agenesis , ectrodactyly , polydactyly , syndactyly , dysostosis , surgery , short stature , dermatology , congenital disease , pediatrics , ectodermal dysplasia
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.