Pendred syndrome (goiter-deafness syndrome)
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Epidemiology
- 5-10% of profound hearing loss in children
Pathology
- congenital sensorineural hearing loss
- associated with thyroid goiter
- often associated with a mondini cochlear defect
Genetics
- autosomal recessive
- associated with defects in pendrin (SLC26A4)
Clinical manifestations
- deafness, sensorineural hearing loss
- goiter
- malformations of the inner ear (some)
Laboratory
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/605646
- ↑ Wikipedia: Pendred syndrome http://en.wikipedia.org/wiki/Pendred_syndrome
- ↑ Pendred syndrome http://ghr.nlm.nih.gov/condition=pendredsyndrome
Pendred Syndrome http://www.nidcd.nih.gov/health/hearing/pages/pendred.aspx