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Pendred syndrome

Background

Pendred syndrome: goiter-deafness syndrome: deafness with goiter

Pendred syndrome (PS) was clinically recognized in 1896 by Vaughan Pendred. A century later, the gene for this condition was discovered by Coyle, Sheffield and colleagues.

PS is characterized by sensorineural (sense perception mediated by nerves) hearing loss, developmental abnormalities of the cochlear (part of the inner ear concerned with hearing and balance), and goiter (enlargement of the thyroid in the front of the neck). Individuals and families are affected differently by the severity of their symptoms; goiter is a particularly variable feature.

What are the symptoms? View What are the symptoms?

Medical text written May 2004 by Contact a Family. Approved May 2004 by Dr V Das, Consultant in Audiological Medicine, Manchester Royal Infirmary, Manchester, UK.

 

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