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Overview of Osteopetroses

(Marble Bones)

by David D. Sherry, MD, Frank Pessler, MD, PhD

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 craniotubular dysplasias (see Craniotubular Dysplasias), craniotubular hyperostoses (see Craniotubular Hyperostoses), and osteosclerosis (see Osteosclerosis). 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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