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Sclerosing bone dysplasias are a group of rare, monogenic disorders characterized by increased bone density resulting from the disturbance in the fragile equilibrium between bone formation and resorption. Over the last decade, major contributions have been made toward better understanding of the pathogenesis of these conditions. These studies provided us with important insights into the bone biology and yielded the identification of numerous drug targets for the prevention and treatment of osteoporosis. Here, we review this heterogeneous group of disorders focusing on their utility in the development of novel osteoporosis therapies. [ABSTRACT FROM AUTHOR]

We report the magnetic resonance (MR) imaging findings in a 4-year-old girl with characteristic radiographic and computed tomography (CT) features of craniodiaphyseal dysplasia. MR imaging exquisitely depicted cranial nerve compression, small foramen magnum, hydrocephalus, and other intracranial complications of this syndrome. A syrinx of the cervical spinal cord was demonstrated. We suggest that MR imaging become a routine component of the evaluation of these patients. [ABSTRACT FROM AUTHOR]

A Negro girl has been followed from age 1 1/2 to 6 years for a severe musculoskeletal disorder with many of the clinical and roentgenological characteristics of Camurati-Engelmann disease. Atypical features, however, have included a geographic pattern of sclerosis of the long bones, a markedly increased density of the neural arches of the vertebral column, and a sharply demarcated sclerosis in the calvaria. The findings in the long bones and spine have become somewhat less pronounced over a five-year period, but the sclerosis of the skull has increased in both extent and thickness. Initially thought to have Camurati-Engelmann disease, the patient now is considered, on the basis of skeletal changes during this time, to have a diagnosis of craniodiaphyseal dysplasia. [ABSTRACT FROM AUTHOR]

The results of histologic, microradiographic and electron microscopic investigations carried out on two bone biopsies pertaining to a case of craniodiaphyseal dysplasia are reported. They show that the affected skeletal segments are chiefly characterized by enhancement of bone volume, and defective calcification of the bone matrix. Moreover, interstitial calcification of skeletal muscle has been found. [ABSTRACT FROM AUTHOR]