We report four sporadic and three familial patients with Camurati-Engelmann disease. One patient had follow-up examinations over 8 years. Pain in the extremities and muscle weakness were common clinical symptoms. Most patients also had cranial nerve impairment, hepatosplenomegaly, a waddling gait, and elevated serum alkaline phosphatase levels. Long bones were affected in all. We discuss the differential diagnosis for this interesting bone entity.
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