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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » D » Deafness/complications/ congenital/radiography

Deafness/complications/ congenital/radiography

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1. Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene

This study investigated what proportion of autosomal recessive condition characterized by deafness and goitre were due to mutation of the Pendred syndrome gene

Abstract:

Although the textbook view of Pendred syndrome is that of an autosomal recessive condition characterized by deafness and goitre, it is increasingly clear that not all such patients present this classical clinical picture. Malformations of the inner ear, specifically enlargement of the vestibular aqueduct, are common in Pendred syndrome and mutations in the PDS (Pendred Syndrome) gene more...

International Classification:

Syndrome - Pendred

Categories:

Pendred syndrome

Geography:

Republic of Ireland and the United Kingdom

Qjm, Vol: 93 Page: 99-104 February 2000
W. Reardon; O. Mahoney CF ; R. Trembath; H. Jan; P. D. Phelps

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