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Osteopetrosis
Osteopetrosis also known as marble bone disease and Albers-Schonberg disease is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to the more prevalent osteomalacia, in which the bones soften. It can cause osteosclerosis.[1] Additional recommended knowledge
CauseNormally, bone growth is a balance between osteoblasts (cells that create bone tissue) and osteoclasts (cells that destroy bone tissue). Sufferers of osteopetrosis have a deficiency of osteoclasts, meaning too little bone is being resorbed, resulting in too much bone being created. SymptomsDespite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal. Mild osteopetrosis may cause no symptoms, and present no problems. However, serious forms can result in stunted growth, deformity, increased likelihood of fractures, and anaemia. It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra bone. VariationsThere are three major clinical forms:
TreatmentThere is no cure, although curative therapy with bone marrow transplantion is being investigated in clinical trials[citation needed]. It is believed the healthy marrow will provide the sufferer with cells from which osteoclasts will develop. Notable cases
See alsoReferences
Categories: Skeletal disorders | Skeletal system |
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This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Osteopetrosis". A list of authors is available in Wikipedia. |