Acheiropodia: report on four new Brazilian patients

Abstract

We report on 4 new patients with acheiropodia (the handless and footless families of Brazil). This autosomal recessive condition involves all 4 limbs with a well-defined pattern of defects. Two of the patients described here had a small bone fragment in the upper stumps (Bohomoletz bone), an uncommon finding in acheiropodia.