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Otosclerosis
Book chapter   Peer reviewed

Otosclerosis

Megan Ealy and Richard J.H Smith
Medical Genetics in the Clinical Practice of ORL, pp.122-129
Advances in Oto-Rhino-Laryngology, S. Karger AG
03/2011
DOI: 10.1159/000322488
PMID: 21358194

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Abstract

Otosclerosis is one of the more common forms of adultonset hearing loss with a prevalence of 0.3–0.4% in Caucasians. It is typically characterized by a conductive hearing loss due to labyrinthine endochondral sclerosis that upon stapedio-vestibular joint invasion results in loss of free motion of the stapes. Its etiology remains poorly understood with both environmental factors and genetic causes implicated in its development. Several environmental influences have been studied and numerous genomic loci have been mapped in families segregating autosomal-dominant otosclerosis. Population-based studies have also identified associations with several genes. These advances are improving our understanding of this complex disease.
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