Progressive diaphyseal dysplasia: a three-generation family with markedly variable expressivity.

Abstract excerpt

Progressive diaphyseal dysplasia was found in a 3-generation family including 18 affected individuals. We describe the clinical and radiographic manifestations in 6 of 18 patients with this autosomal-dominant bone dysplasia and the good symptomatic response to corticosteroid treatment in one of these. The variability of manifestations of the disease in this family and in others previously described seems to...

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