Ocular involvement in chondrodystrophia calcificans congenita punctata.

Abstract

Chondrodystrophia fetalis hypoplastica (Conradi,11914), epiphysial dysplasia puncticularis,2calcinosis universalis,4epiphyseal dysplasia punctata,5chondrodystrophia calcificans congenita,6metaphyseal dyscrasia,7congenital stippled epiphyses,8and chondrodysplasia calcificans congenita punctata are names that were coined at one time or another to designate a congenital syndrome which includes, among other things, a premature generalized deposition of calcium salt in discrete foci in the regions of enchondral ossification in the skeletal framework. However, since Conradi first alerted the medical profession to this syndrome more information has accumulated, which, though still far from clarifying our understanding of this disease, has enabled us to appreciate not only that this syndrome is a chondrodystrophy, although this is one of its prominent manifestations, but also that not all calcified stipplings of the epiphvses belong to this syndrome. The radiologists were the first to report this condition, because of its characteristic x-ray appearance; later