ABSTRACT

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- β1) gene and characterized by cortical thickening of the diaphysis of tubular bones with sparing of the epiphysis and low bone mineral density. In this case report we presented a 23 year-old girl who has diagnosed as CED by genetic department and referred to our outpatient clinic with neck pain, dorsal pain, limbs pain and low bone mineral density. (Turkish Journal of Osteoporosis 2011;17:59-61)