From the Department of Surgery, University Health Network, Toronto, Ont. O steopetrosis refers to a group of disorders characterized by severe impairment of osteoclast-mediated bone resorption. Other terms that are often used for this disease are marble bone disease, which describes the solid radiographic appearance of the involved skeleton, and Albers–Schonberg disease, which refers to the mil...

Osteopetrosis, also known as marble bone disease, is a clinically rare genetic disease, which represents a heterogeneous group of rare, inherited bone dysplasias that share the hallmark of abnormally increased bone density caused by osteoclast dysfunction. Hereby, the authors describe a case of osteopetrosis that showed increased diffuse radioactive uptake on whole body bone Tc-methylene diphos...

in the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia and nerve entrapment accounts for p...

Osteopetrosis is an inherited disorder characterized by increased bone density and brittle bone quality. Degenerative changes often occur after the age of 40 in patients with osteopetrosis. Operative intervention is the primary treatment option if the clinical manifestation of secondary osteoarthritis is severe. A 44-year-old male suffering autosomal dominant osteopetrosis and progressive unila...

Osteopetrosis is a rare bone disease caused by metabolic imbalances as a result of genetic mutations. For instance, autosomal dominant osteopetrosis is caused by a missense mutation of the C1CN7 gene. This was first reported in 1904 and is thought to be caused by osteoclastic dysfunction and an impaired bone resorption ability. An accumulation of cortical bone mass during the remodeling of the ...

Osteopetrosis is a congenital metabolic bone disease characterized by skeletal sclerosis resulting from defective osteoclast-mediated bone resorption. The disease may, inter alia, be caused by the administration of bisphosphonates (e.g. pamidronate) particularly in young humans. The issue of the effect of pamindronate-induced osteopetrosis on the function of blood circulation and autonomic nerv...

Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence o...

BACKGROUND Osteopetrosis is an uncommon, inherited disease, characterized by osteosclerosis, obliteration of the medullary canal, calcified cartilage and brittle bone due to impaired osteoclast resorption. Osteoarthritis is common in patients with osteopetrosis. If the patient has pain and dysfunction, total joint arthroplasty is often the treatment of choice but presents many intraoperative an...

Osteopetrosis is a rare hereditary disease which is characterized by increased bone density. Bone resorption is insufficient or fails due to the osteoclast defect in osteopetrosis. Half of the patients are asymptomatic and diagnosed incidentally or based on the presence of fracture. Adult onset osteopetrosis usually presents with hip and proximal femoral fractures. Internal fixation can be perf...