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- W2024937112 abstract "Albers-Schonberg first reported osteopetrosis in 1904 in an adult patient with generalized bone sclerosis and multiple fractures. Osteopetrosis is a heterogeneous group of inherited bone remodeling disorders in which there is a defect in bone resorption by osteoclasts. The disease is associated with an increase in skeletal mass due to abnormally dense bone. The decrease in osteoclastic activity also affects the shape and structure of the bone. Abnormal remodeling of primary woven bone to lamellar bone results in brittle bone that is prone to fracture. The clinical manifestations and prognosis vary depending on the classification and genetic features. In severely affected patients, the medullary cavity is filled with new bone leaving little space remaining for haematopoietic cells, leading to a number of haematological and metabolic abnormalities. Neurological sequelae are common in osteopetrosis, particularity auditory and optic nerve dysfunction. Canal stenosis can lead to blindness and deafness. In addition facial nerve paralysis, developmental delay, and mental retardation can occur. Orthopaedic problems relevant to all clinical variants include pathological fractures, coxa vara, long-bone bowing, back pain, arthritis and osteomyelitis." @default.
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- W2024937112 date "2007-12-01" @default.
- W2024937112 modified "2023-09-25" @default.
- W2024937112 title "Marble bone disease" @default.
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- W2024937112 doi "https://doi.org/10.1016/j.cuor.2007.11.010" @default.
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