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- W2062407297 abstract "The aim of this study was to review the different types of genetic deafness.We describe syndromic and isolated sensorineural deafness and transmission deafness.Genetic sensorineural syndromic deafness represents 30% of cases of genetic deafness. A frequent cause is Pendred syndrome, which associates congenital sensorineural deafness with goitre and malformations of the inner ear which can be identified on computed tomography scan. Isolated deafness which is responsible for 70% of cases of genetic deafness is then outlined. Among the different types of isolated deafness, 80% are autosomal recessive disorders. A frequent form of autosomal recessive deafness is due to mutations in the connexin 26 gene. Lastly, we detail transmission deafness dominated by aplasia. Major aplasia is characterized by a malformation of the external ear associated with malformations of the middle ear whereas, minor aplasia corresponds to a malformation of the middle ear, sometimes associated with minor external ear malformations.For each type of deafness we propose a systematic assessment." @default.
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- W2062407297 date "2006-06-01" @default.
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- W2062407297 title "Surdités d’origine génétique" @default.
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- W2062407297 doi "https://doi.org/10.1016/s0003-438x(06)76655-5" @default.
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