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...

RATIONALE Osteopetrosis is a rare disease that predominantly occurs in descendants of inbreeding families. In the case of fractures happen in patients with osteopetrosis, the choice between operative or conservative treatment is still controversial. Open reduction and internal fixation (ORIF) is a conventional treatment for fractures, and it possesses more applicability than conservative treatm...

Proximal femoral fracture and coxarthrosis are the most common orthopaedic problems of osteopetrosis. Fracture fixation is difficult and one-third fail, with total hip replacement as the final solution. There is little reported experience about how to deal with this particular type of bone and what has been published to date is surprisingly non-specific. Corrective osteotomies are mainly undert...

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...

a 3-year-old boy is presented who has clinical and radiological features of pycnodysostosis. He also suffers from haematological and visceral complications suggestive of osteopetrosis, which have not previously been described in pycnodysostosis. This variant form of dense bone disease appears to provide the clinical link between pycnodysostosis and osteopetrosis and shows yet another example of...

Osteopetrosis is a rare metabolic bone disease caused by a congenital defect in the development or function of the osteoclasts, resulting in generalised increase in skeletal mass. Osteomyelitis is a recognised complication, and prevention of dental infections can be difficult. Osteomyelitis is typically located in the mandible; the disease can also occur in the maxilla, but only rarely. We desc...