Osteopetrosis: Easy to diagnose but difficult to manage
Abstract
Osteopetrosis is a rare and inherited skeletal disorder characterized by severe osteosclerosis due to a defect in osteoclast differentiation (osteoclast deficient) or its dysfunction (osteoclast rich). Three types of osteopetrosis have been described like congenital (autosomal recessive), intermediate or marble bone disease (autosomal recessive) and tarda (autosomal dominant). Prognosis is worst for osteopetrosis congenital, better for marble bone disease and best for osteopetrosis tarda. Treatment is primarily symptomatic with stem cell marrow transplantation for the most severe cases (autosomal recessive types) with bone marrow failure and currently offers best chance of longer survival.
Key words: Osteopetrosis; marble bone disease; Albers-Schonberg disease; bone marrow failure; bone mineral density; Erlenmeyer flask" deformity
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