Abstract
Abstract Craniometaphyseal dysplasia is an extremely rare genetic disorder characterized by dysplastic, sclerotic, and hyperostotic involvement of cranial and tubular bones. The majority of the cases are inherited via an autosomal dominant pattern. We present a 3-year-old girl referred to an otolaryngology consultation with complaints of facial dysmorphia and progressive hearing loss. The clinical aspects, pathogenesis, and management of this disease are also reviewed in this paper. Early diagnosis is crucial to allow early medical or surgical treatment and to establish prognosis. The prognosis is generally promising, since this disease normally abates during the third decade of life.
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