TGFB1 and cranioectodermal dysplasia: 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).