Overview of Osteopetroses

(Marble Bones)

ByFrank Pessler, MD, PhD, Helmholtz Centre for Infection Research
Reviewed/Revised Nov 2022
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    Osteopetroses are familial disorders characterized by increased bone density and skeletal modeling abnormalities.

    Osteopetroses can be categorized based on whether sclerosis or defective skeletal modeling predominates. There are a number of different types, including

    They are all familial but have different inheritance patterns. Some types are comparatively benign; others are progressive and fatal.

    Bony overgrowth sometimes severely distorts the face. Malocclusion of the teeth may require specialized orthodontic measures.

    Plain x-rays typically are diagnostic.

    Surgical decompression may be required to relieve elevated intracranial pressure or to release a trapped facial or auditory nerve.

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