title: 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.affiliation: Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Silvana C
authors.initials: SC
authors.lastname: Santos
authors.forename: Eliete
authors.initials: E
authors.lastname: Pardono
authors.forename: Maria Ione
authors.initials: MI
authors.lastname: Ferreira da Costa
authors.forename: Aurea Nogueira
authors.initials: AN
authors.lastname: de Melo
authors.forename: Zodja
authors.initials: Z
authors.lastname: Graciani
authors.forename: Alessandra Cavalcanti
authors.initials: AC
authors.lastname: de Albuquerque e Souza
authors.forename: Karina
authors.initials: K
authors.lastname: Lezirovitz
authors.forename: Renata Soares
authors.initials: RS
authors.lastname: Thiele-Aguiar
authors.forename: Regina Célia
authors.initials: RC
authors.lastname: Mingroni-Netto
authors.forename: John M
authors.initials: JM
authors.lastname: Opitz
authors.forename: Fernando
authors.initials: F
authors.lastname: Kok
authors.forename: Paulo A
authors.initials: PA
authors.lastname: Otto
mesh_terms: D000368:Aged; D001938:Brazil; D002648:Child; D003025:Clubfoot / Q000150:complications* / Q000000981:diagnostic imaging; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D005360:Fibula / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005843:Geography; D006801:Humans; D008297:Male; D008875:Middle Aged; D009264:Nails, Malformed / Q000150:complications* / Q000000981:diagnostic imaging; D010375:Pedigree; D011859:Radiography; D013577:Syndrome