Camurati-Engelmann disease (CED, MIM #131300), also called progressive diaphyseal dysplasia (PDD), is a rare autosomal dominant skeletal disorder that belongs to the group of sclerosing bone dysplasia, the pathogenic gene of which is the transforming growth factor β1 (TGFB1) (1, 2). Here, TGFB1 is linked to Camurati-Engelmann disease.