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  • Title: X-linked deafness with stapes gusher in females.
    Author: Papadaki E, Prassopoulos P, Bizakis J, Karampekios S, Papadakis H, Gourtsoyiannis N.
    Journal: Eur J Radiol; 1998 Nov; 29(1):71-5. PubMed ID: 9934561.
    Abstract:
    A 22-year-old woman presented with severe mixed hearing loss and a flow of cerebrospinal fluid in the middle ear during stapes surgery (stapes gusher). HRCT of the temporal bones showed characteristic abnormalities of the inner ear (bulbous dilatation of the lateral portion of the internal acoustic meatus with incomplete separation from the cochlea, and widening of the first part of the facial nerve canal) described in X-linked progressive mixed deafness with stapes gusher. The evaluation of the patient's family revealed a sister with the same clinical history and identical HRCT findings, and 11 normal male relatives. This is the first report with typical findings of this entity that affects only female members of a family, suggesting another type of inheritance.
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