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Marble bone disease is also known by its medical name: osteopetrosis. It was first described and named by a German radiologist in 1904. Sometimes it is referred to by the radiologist's name: Albers-Schönberg disease.
Osteopetrosis is a hardening and overgrowth of bone. It can affect any bone but seems to especially target the bones of the skull and extremities (arms and legs).
A lack of hydrochloric acid needed by bone cells to break down and dissolve old bone cells is the underlying pathology. An inherited genetic mutation results in one of three forms of osteopetrosis. The most common type is called benign osteopetrosis.
Many people with benign osteopetrosis do not have any symptoms. Those who do are usually diagnosed after a series of bone fractures that don't heal well. In some cases, overgrowth of the cranial (skull) bones puts pressure on the nerves to the face, eyes, and ears. Pain and loss of hearing or vision can occur.
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