A very rare inherited disorder in which bones harden and become denser. Deficiency of one of the 2 types of bone cell responsible for healthy bone growth results in a disruption of normal bone structure. In its mildest form, there may be no symptoms; more severe forms of osteopetrosis result in abnormally high susceptibility to fractures; stunted growth; deformity; and anaemia. Pressure on nerves may cause blindness, deafness, and facial paralysis.
Most treatments for osteopetrosis aim to reduce the severity of symptoms. Bone marrow transplants of cells from which healthy bone cells might develop are undertaken in some cases.
(Albers-Schönberg disease, marble-bone disease) n. a congenital abnormality in which bones become abnormally dense and brittle and tend to fracture. Affected bones appear unusually opaque to X-rays. In severe forms, which are inherited as autosomal *recessive characteristics, the bone marrow is obliterated, causing anaemia and infections. Mild forms show autosomal *dominant inheritance. Treatment is by bone marrow transplantation. See also osteosclerosis.
The compactness of bone tissue in relation to its volume. A decrease in bone density is a normal part of aging. However, in some people, excessive loss of density (see osteoporosis) can lead to fractures. Less commonly, an increase in bone density (see osteosclerosis) occurs in certain disorders (see osteopetrosis; Paget’s disease). Bone density can be measured by a technique known as densitometry, which uses low-dose X-rays.... bone density
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