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Pendred's syndrome

Acoustic, vestibular and radiological findings in 17 unrelated patients

Published online by Cambridge University Press:  29 June 2007

T. Johnsen ,
C. Larsen ,
J. Friis  and
F. Hougaard-Jensen
T. Johnsen*
Affiliation:
ENT Department, Gentofte University hospital, Helleup.
C. Larsen
Affiliation:
ENT Department, Rigshospital, Copenhagen.
J. Friis
Affiliation:
Department of Medicine E, Frederiksberg Hospital.
F. Hougaard-Jensen
Affiliation:
ENT Department, Rigshospital, Copenhagen.
*
T. Johnsen, M.D., ENT Department, Gentofte University Hospital, DK-2900 Hellerup, Denmark.
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Abstract

Seventeen unrelated Danish patients with Pendred's syndrome, whose case stories have not been published previously, are presented. Acoustic and vestibular functions were examined and endocrinological screening was performed. There was a great variation in hearing ability as well as in thyroid function. Furthermore, in contrast to previous investigations, normal caloric function was demonstrated in the majority. In all patients a Mondini malformation was demonstrated. On the basis of this investigation it is concluded that: (1) the Mondini defect is part of Pendred's syndrome; (2) the inherited Mondini malformation is the underlying cause of the sensorineural hearing impairment; and (3) the hearing sensitivity varies greatly in these patients.

Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 101 , Issue 11 , November 1987 , pp. 1187 - 1192
Copyright
Copyright © JLO (1984) Limited 1987

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