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 agenesismarked hypoplasia, grossly malformeddeformed clubfeet with severe oligodactyly, upper limbs with acromial dimples and variable motion limitation of the forearms andor hands, severe nail hypoplasiaanonychia sometimes associated with mild brachydactyly and occasionally with preaxial polydactyly. This syndrome is apparently distinct from the syndrome of brachydactylyectrodactyly 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 agenesishypoplasia. © 2008 WileyLiss, Inc.