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Summary Progressive diaphyseal dysplasia, also known as Camurati-Engelmann disease (CED), is a rare autosomal dominant bone disorder caused by mutations in the transforming growth factor beta 1 (TGF- [beta]1) gene and characterized by cortical thickening of the diaphysis of tubular bones with sparing of the epiphysis and low bone mineral density.
Introduction Camurati-Engelmann disease (CED), or progressive diaphyseal dysplasia, is a rare sclerosing dysplasia of which 250 cases have been described in the English literature.
Regarding Camurati-Engelmann disease, all the following are correct, except for: A.