TGFB1 and cranioectodermal dysplasia: Several mutations in the TGF-β1 gene were reported to cause Camurati–Engelmann disease (CED; OMIM131300), a rare autosomal dominant disease characterized by cortical thickening of the diaphyses of long bones, hyperostosis, and bone pain.245,246 Nonsense, missense, and frameshift mutations of Smad3 were reported to cause aneurysms–osteoarthritis syndrome (AOS; OMIM 613795), which is presented with aneurysms, dissections, and tortuosity throughout the arterial tree in association with mild craniofacial features as well as skeletal and cutaneous anomalies.15,60,61