eMedicine Osteopetrosis

Description: eMedicine - Osteopetrosis : Article by Anuj Bhargava Background A German radiologist, Albers-Schönberg, first described osteopetrosis in 1904. Osteopetrosis is a clinical syndrome characterized by the failure of osteoclasts to resorb bone. As a consequence, bone modeling and remodeling are impaired. The defect in bone turnover characteristically results in skeletal fragility despite increased bone mass, and it may also cause hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Human osteopetrosis is a heterogeneous disorder encompassing different molecular lesions and a range of clinical features. However, all forms share a single pathogenic nexus in the osteoclast.