Metaphysial Dysostosis, Type Schmid

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Abstract
These cases with some of those already published form a group clearly distinguishable from the "metaphysial dysostosis" described by Jansen. The evidence from all these cases strongly suggests that the Schmid type is hereditary and determined by a dominant autosomal gene of high penetrance and high mutation rate. An associated biochemical disorder has not been discovered. No treatment is suggested, though in one case, the remarkable effect of immobilization in improving the radiological appearance of the metaphyses is confirmed. Vitamin D has no beneficial effect on the disease. It is important to distinguish this disease from the various forms of "resistant rickets" which it so closely resembles clinically and radiologically.