BACKGROUND Osteopetrosis is a rare genetic disorder characterized by increased bone density due to a defective osteoclast's bone resorption. Three clinical forms can be identified based on severity, age of onset and inheritance: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). Several genes have been involved in the pathogenesis of these different...

Osteopetrosis (OP) variably referred to as ‘Marble bone disease’ or ‘Albers Schonberg disease’ was first described by a German radiologist in 1904. It is a group of genetically and clinically heterogeneous disorders characterized by increased skeletal density. Clinical severity varies from asymptomatic adults to a life-threatening condition in infants. Autosomal recessive osteopetrosis has an i...

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 ...