Personal practice: Autosomal recessive osteopetrosis: diagnosis, management, and outcome

Abstract excerpt

is a rare congenital disorder of bone resorption. It is caused by the failure of osteoclasts to resorb immature bone.1–3 This leads to abnormal bone marrow cavity formation and clinically to the signs and symptoms of bone marrow failure. Impaired bone remodelling causes bony narrow-ing of the cranial nerve foramina which results in cranial nerve, especially optic nerve, compression.2 Pathologically there is a...

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