X- linked sensorineural hearing loss a literature review
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Metrics details. Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. The auditory phenotype in Stickler syndrome is inconsistently reported. Therefore we performed a systematic review of the literature to give an up-to-date overview of hearing loss in Stickler syndrome, and correlated it with the genotype.
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New Imaging Findings of Incomplete Partition Type III Inner Ear Malformation and Literature Review
X-Linked Sensorineural Hearing Loss: A Literature Review
To browse Academia. Skip to main content. Log In Sign Up. Papers People. No GJB6 mutation was found. We also examined the audiologic features of the patients for whom we had an etiologic diagnosis, in order to identify correlations between the severity of hearing loss and the type of mutation.
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Hearing impairment in Stickler syndrome: a systematic review
Background and objective: X-linked hypophosphataemic osteomalacia is the most common of the genetically determined forms of osteomalacia. The occurrence of hearing loss in X-linked hypophosphataemic osteomalacia has been known since However, observations on the progression of such hearing loss, and suggestions regarding possible therapy, have not previously been published. Methods: Case report of a patient with X-linked hypophosphataemic osteomalacia and hearing loss, with three years' audiological follow up, description of empirical therapy and literature review.
Oguz Kadir Egilmez, M. Congenital hearing impairment affects nearly 1 in every live births and is the most frequent birth defect in developed societies. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body.
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