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Abstract

Craniometaphyseal dysplasia, one of several rare familial systemic bone disorders of the osteopetrosis bone-disease group, is characterized by abnormal bony thickening of the skull and multiple cranial neuropathies. Hearing loss, commonly of a mixed type, is the usual symptom presented to the otolaryngologist—head and neck surgeon; however, recurring facial paralysis, blindness, and atypical fades may also be noted. A case of bilateral facial nerve dysfunction in a neonate, the offspring of a thoroughly studied kindred with known craniometaphyseal dysplasia, Is presented. The clinical and radiographic features of the disorder are discussed, including an outline of the operative management of facial paralysis.

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Otolaryngologic Features of Craniometaphyseal Dysplasia

Abstract

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