Osteopetrosis is a rare genetic disorder characterized by an increase of bone mass due to defective osteoclast function. Patients typically displayed spontaneous fractures, anemia, and in the most severe forms hepatosplenomegaly and compression of cranial facial nerves leading to deafness and blindness. Osteopetrosis comprises a heterogeneous group of diseases as several forms are known with di...

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...

Loss of the lysosomal ClC-7/Ostm1 2Cl /H exchanger causes lysosomal storage disease and osteopetrosis in humans and additionally changes fur colour in mice. Its conversion into a Cl conductance in Clcn7 mice entails similarly severe lysosomal storage, but less severe osteopetrosis and no change in fur colour. To elucidate the basis for these phenotypical differences, we generated Clcn7 mice exp...

Congenital osteopetrosis in the mutant rat "op" is accompanied by early atrophy of the thymus gland. The response of thymocytes to concanavalin A and phytohemagglutinin P was greatly diminished at age 28 days, even before pronounced thymic atrophy could be detected. The response of spleen cells to mitogens that stimulate thymus-derived (T) and bone-marrow-derived (B) cells was diminished as ear...

Osteopetrosis is a rare hereditary disease that develops as result of genetic mutations leading to impaired development and function osteoclasts. There are several forms osteopetrosis differ in the type inheritance (autosomal recessive, autosomal dominant intermediate) severity symptoms. The main clinical manifestations frequent pathological fractures, anemia, thrombocytopenia, infectious compl...

The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel syndrome or marble brain disease. Clinical manifestations of this autosomal recessive syndrome comprise increased bone density, growth failure, intracerebral calcification, facial dysmorphism, mental retardation, and conductive hear...

Autosomal dominant osteopetrosis (Albers-Schönberg disease) classically displays the radiographic signs of osteosclerosis. The main ADO complications involve the skeleton: low-impact bone fractures, scoliosis and hip osteoarthritis. Management of osteopetrosis-related orthopedic problems is a surgical challenge due to increased bone density. The healing process is very slow in these patients be...

BACKGROUND Osteopetrosis is a group of genetically heterogonous diseases and the main feature of that is increased bone density due to osteoclast's abnormality. It has three clinical forms based on inheritance pattern, severity and age of onset: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). One of the recently discovered genes for ARO form is S...

The term avian osteopetrosis is used to describe alterations to the skeletal elements of several species of domestic bird, most typically the chicken, Gallus gallus domesticus (L. 1758). Such lesions are routinely identified in animal bones from archaeological sites due to their distinctive appearance, which is characterised by proliferative diaphyseal thickening. These lesions are relatively u...

Mice that are homozygous for the recessive osteopetrosis spontaneous mutation (op/op) develop severe osteopetrosis due to a defect in the production of macrophage colony-stimulating factor (M-CSF) and a deficiency in monocyte-derived osteoclasts. Our study describes a novel soft tissue finding in an osteopetrosis (B6C3Fe a/a-Csf1(op)/J) mouse model. Tissues were obtained from B6C3Fe a/a-Csf1(op...