Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.
Camurati-Engelmann disease (progressive diaphyseal dysplasia): reports of an Indian kindred.
Bhadada SK, Sridhar S, Steenackers E, Dhiman V, Mortier G, Bhansali A, Van Hul W. Calcif Tissue Int. 2014;94(2):240-7.
Camurati-Engelmann disease (CED, OMIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant skeletal dysplasia, caused by mutations in the transforming growth factor-9461 (TGF9461) gene.
