marble bone disease
rare hereditary congenital disorder in which the bones become extremely dense, hard, and brittle. The disease progresses as long as bone growth continues; the marrow cavities become filled with compact bone, and severe anemia results. In marble bone disease, bone-resorbing cells called osteoclasts are either reduced in number or are ineffective. Fractures are frequent; deafness and loss of vision may occur because cranial nerves become compressed by the narrowing of their passageways as bone is deposited in the skull. Severe cases may be fatal; individuals with mild cases of the disorder may have a normal life expectancy. Treatment may include gamma interferon, a protein that delays progression of the disease; bone marrow transplantation; or calcitriol, a vitamin D compound that stimulates osteoclasts to dissolve and absorb bone.
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