(NBK1434 OR NBK1467) - Books

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Figure 1.

Audioprofile

Hereditary Hearing Loss and Deafness Overview.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Figure 2.

Causes of prelingual hearing loss in developed countries

Hereditary Hearing Loss and Deafness Overview.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Figure 1.

Computed tomography in a proband with PDS shows absence of the upper turn of the cochlea and deficiency of the modiolus (white arrow). EVA is also present (black arrow). Inset shows a normal right cochlea and no enlargement of the vestibular aqueduct, which is not even apparent in this example.

Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Figure 2.

In an unbiased screen of 2434 persons who underwent comprehensive genetic testing for hearing loss, Pendred syndrome / nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) caused by biallelic pathogenic variants in SLC26A4 was the third most common diagnosis of 79 different genetic diagnoses, comprising 6% of the total [Sloan-Heggen et al 2016; Smith et al, unpublished data].

Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.