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Marble bone disease

Definition

noun

A rare hereditary congenital disease characterized by an excessive calcification of bones resulting in a marble-like appearance.


Supplement

The disease is caused by a defect in bone resorption due to a deficiency or ineffective osteoclasts. Hence, few bones are resorbed resulting in too much bone being formed.

In severe forms, the bone marrow, the tissue that makes red blood cells, may be obliterated as the compact bones fill in the marrow cavity. As a result, sufferers may also develop anemia.

It may also result in stunted growth, deformity, and increased likelihood of fractures. It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra bone.


Also called: Albers-Schonberg disease, osteopetrosis, osteosclerosis fragilis generalisata.
Compare: osteomalacia, osteoporosis.
See also: osteosclerosis.


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