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KMID : 0858620020060020152
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Korean Journal of Audiology
2002 Volume.6 No. 2 p.152 ~ p.156
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A Case of Craniometaphyseal Dysplasia Associated with Hearing Impairment and Vertigo
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Kim Seung-Hyun
Yoon Je-Hawn
Cho Yong-Bum
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Abstract
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Craniometaphyseal dysplasia (CMD) that was first described as a separate entity by Peter Jackson et al in 1954, belongs a group of osteopetrosis and is characterized by metaphyseal dysplasia, sclerosis of the base of the skull and overgrowth of craniofacial bone. Since that time, there had been some reports of CMD and it had become evident that the autosomal dominant form is relatively mild, comparatively common, while autosomal recessive form is rare, severe. Clinical feature of CMD is a variable of facial distortion, cranial nerve neuropathy, increased intracranial pressure and this all may be found in combination or alone. Recently, we have experienced a case of CMD with dizziness and hearing loss in a 18 year old female patient and report this case with the review of literatures.
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KEYWORD
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Craniometaphyseal dysplasia, Vertigo, Hearing loss, Facial paralysis
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