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- W4239417114 abstract "This chapter focuses on osteopetrosis, which results from a reduction in bone resorption relative to bone formation, leading to an accumulation of excessive amounts of bone. This imbalance leads to a thickening of the cortical region and a decrease in the size of the medullary space in the long bones, with sclerosis of the base of the skull and vertebral bodies. A reduced marrow space results in decrease in hematopoiesis even to the point of complete bone marrow failure. Extramedullary hematopoiesis occurs but is unable to compensate for the reduction in medullary blood cell production. A decrease in the caliber of the cranial nerve and vascular canals leads to nerve compression and vascular compromise. Dense, poorly vascularized bones are subject to fracture and, being vascularized, are predisposed to necrosis and infection. Osteopetrosis has been divided into a fatal infantile malignant form, Albers-Schrnberg Disease, and a milder adult form of osteopetrosis with long-term survival. Patients with osteopetrosis presenting at birth or in early infancy are usually referred to as having the severe, malignant form. The intermediate form of osteopetrosis is frequently “silent” at birth with few or no obvious clinical abnormalities. These patients tend to have fractures toward the end of the first decade and frequently have repetitive fractures with very minor trauma. Infections of the bone can be difficult to eradicate, especially if the mandible is involved. A subgroup of patients with the intermediate form of osteopetrosis have a carbonic anhydrase II deficiency and hyperchloremic metabolic acidosis. The adult forms of osteopetrosis are usually diagnosed symptomatically in the second decade, and they rarely significantly alter hematopoiesis. Defects in type I disease result in cranial nerve compression, but fractures are rare. In type II disease, fractures are common, but nerve compression is rare." @default.
- W4239417114 created "2022-05-12" @default.
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- W4239417114 date "2002-01-01" @default.
- W4239417114 modified "2023-09-26" @default.
- W4239417114 title "Osteopetrosis" @default.
- W4239417114 doi "https://doi.org/10.1016/b978-012098652-1/50171-2" @default.
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