Cataracts of dysplasia epiphysialis punctata.

This rare disease of cartilage in infants has been recorded under various names since it was first described by Langhans (I893). Amongst these are chondrodystrophia calcificans congenita, chondrodystrophia punctata, stippled epiphyses, foetal epiphyseal calcinosis, chondrodystrophia calcarea, chondroangiopathia calcarea seu punctata, and chondrodystrophia hypoplastica calcinosa. Conradi (1914) described the radiological appearance of the condition. He thought it was an atypical form of achondroplasia, and it was not until much later that Fairbank (I927) distinguished the two conditions. In 43 cases described by Yakovac (954), 25 per cent. had bilateral cataracts; these were present in Conradi's original case. Optic atrophy has also been described in this condition. The disease, as the name suggests, has a striking radiographic appearance, the irregular calcification of the cartilage of the epiphyses giving a characteristic stippled appearance. This stippling mav be generalized throughout the cartilage or limited to an area around the centre of ossification. It has been reported to disappear later in childhood (Paul, I 954). In association with this abnormality there are usually other defects. The infants are frequently dwarfs of the short limb type. There may be contractures of the limbs, talipes, kyphoscoliosis, "saddle-shaped" nose, enlargement of the skull, and mental deficiency, and the skin may be thickened. In gener?l the infant is weak and usually fails to thrive, so that death from intercurrent infection in the first I 2 months of life is almost the rule.