Chondrodystrophia Congenita Punctata (Conradi's Disease)

Abstract

This is a report on the rare disorder, chondrodystrophia congenita punctata, with a review of the literature, a tabulation of the 54 cases of this disorder, and the addition of one case with unique features. Our patient with Conradi's disease and congenital cataracts survivedbeyond the age of 2 years, an occurrence that has not been reported previously. For the sake of brevity we shall refer to chondrodystrophia congenita punctata as Conradi's disease, after the German physician who first described it in 1914. Conradi's disease is a rare disorder of the bones of the fetus and newborn, characterized by the presence of stippled foci of calcifications within hyaline cartilage and giving an appearance by x-ray of paint splattered on the epiphyses. Other abnormalities which are sometimes found with this disease are dwarfing, with short upper arms and legs, stiff and contracted joints, congenital cataracts, dry scaly or unusually pigmented skin, a