Osteopetrosis (Marble Bones)

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منابع مشابه

Osteopetrosis (Marble Bone Disease): A Rare Disease in Children

Osteopetrosis is a group of diseases that affects the growth and remodeling of bone and characterized by over growth and sclerosis of bone, with thickening of the bony cortices, abnormal dental development and narrowing of the marrow cavities throughout the skeleton. It is an uncommon disease of unknown cause. A 5-year-old boy was suffering from infantile (severe form) osteopetrosis with cardia...

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Marble bone disease: a review of osteopetrosis and its oral health implications for dentists.

Osteopetrosis is one cause of osteosclerosis and may result in such serious oral complications as osteomyelitis and exposed necrotic bone. Dentists should be aware of patients with the disease because of its effect on osteoclast function, which results in impaired wound healing. The purpose of this paper is to review the causes, pathogenesis and differential diagnosis of osteopetrosis and to pr...

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Ae2(a,b)-deficient mice exhibit osteopetrosis of long bones but not of calvaria.

Extracellular acidification by osteoclasts is essential to bone resorption. During proton pumping, intracellular pH (pH(i)) is thought to be kept at a near-neutral level by chloride/bicarbonate exchange. Here we show that the Na(+)-independent chloride/bicarbonate anion exchanger 2 (Ae2) is relevant for this process in the osteoclasts from the long bones of Ae2(a,b)(-/-) mice (deficient in the ...

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Osteopetrosis

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...

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Mixed Sclerosing Bone Dystrophies

Many of the sclerosing bone dystrophies fall within the classification employed by Fairbank (1951). However, patients occasionally present features suggesting a possible relationship between osteopoikilosis (spotted bones), osteopathia striata (striated bones, Voorhoeve’s disease), melorheostosis (running wax bones) and osteopetrosis (dense or marble bones). Areas of dense bone arranged in diff...

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ژورنال

عنوان ژورنال: Proceedings of the Royal Society of Medicine

سال: 1948

ISSN: 0035-9157

DOI: 10.1177/003591574804101229