[Irapa type spondylo-epiphyso-metaphyseal osteochondrodysplasia. New type of dwarfism with short spine and metatarsals]

Abstract

A new dwarfism of a spondyloepiphysometaphyseal dysplasia is described among Venezuelan Indians of the Yukpa (Irapa) tribe. Brachyrrhahia, brachymetatarsia and brachyrhyzomelia in upper limbs and manifestations in proximal epiphyses of femora and distal epiphyses of humera, with moderate to serious impairment of gait, but no significance deviations of the spine, are the main clinical findings. It is a well individualized type among a very heterogeneous and ill-defined group of chondrodystrophies. The inheritance is through an autosomal recessive or less probably an X-linked gene.