Article
Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease.
Clinical rheumatology - 1 Oct 2007
Bondestam Jonas, Mäyränpää Mervi K, Ikegawa Shiro, Marttinen Eino, Kröger Heikki, Mäkitie Outi
Abstract excerpt
Progressive diaphyseal dysplasia (MIM 131300), also known as Camurati-Engelmann disease (CED), is a rare autosomal dominant craniotubular dysplasia caused by mutations in the transforming growth factor beta1 (TGF-beta1) gene. Radiographs of the long bones of a 9-year-old boy presenting with waddling gait, muscular weakness, underweight, and severe skeletal pain showed symmetric diaphyseal cortical thickening...
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