A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.
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.
Santos
Silvana C
SC
Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Pardono
Eliete
E
Ferreira da Costa
Maria Ione
MI
de Melo
Aurea Nogueira
AN
Graciani
Zodja
Z
de Albuquerque e Souza
Alessandra Cavalcanti
AC
Lezirovitz
Karina
K
Thiele-Aguiar
Renata Soares
RS
Mingroni-Netto
Regina Célia
RC
Opitz
John M
JM
Kok
Fernando
F
Otto
Paulo A
PA
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