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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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References

Agerbaek, H. (1973) Non-toxic goitre. Acta Endo-crinologica, 72: 671–683.Google Scholar
Deramaeker, R. (1965) Congenital deafness and goiter. American Journal of Human Genetics, 8: 253–256.Google Scholar
Fraser, G. R. (1965) Association of congenital deafness with goitre (Pendred's syndrome). Annals of Human Genetics, 28: 201–247.CrossRefGoogle ScholarPubMed
Hvidberg-Hansen, J., and Jørgensen, M. B. (1968) The inner ear in Pendred's syndrome. Acta Otolaryngologica, 66: 129–135.Google ScholarPubMed
Ilium, P., Kiær, H. W., Hvidberg-Hansen, J., and Søndergaard, G. (1972) Fifteen cases of Pendred's syndrome. Archives of Otolaryngology, 96: 297–304.CrossRefGoogle Scholar
Jensen, J. (1967) Tomography of the inner ear in deaf children. Radiological demonstration of two cases with the Mondini malformation. Journal of Laryngology and Otology, 81: 27–35.CrossRefGoogle ScholarPubMed
Jensen, J. (1969) Malformations of the inner ear in deaf children. A tomographic and clinical study. Acta Radiologica, Supplement 286: 1–97.Google Scholar
Johnsen, S. (1958) Familial deafness and goitre in persons with a low serum level of protein-bound iodine. Acta Otolaryngologica, Supplement 140: 168–177.CrossRefGoogle Scholar
Johnsen, T., Jørgensen, M. B., and Johnsen, S. (1986) Mondini cochlea in Pendredøs syndrome. A histological study. Acta Otolaryngologica (Stockholm), 102: 239–247.CrossRefGoogle ScholarPubMed
Konigsmark, B. W., and Gorlin, R. J. (1976) Genetic and metabolic deafness. Saunders Company, New York, p. 333.Google Scholar
Mondini, C. (1891) Anatomia surdi nati sectio: D bononiensi scientiarum et artium instituto atque academia commentarii. Bononia, VII (opuscula): 419–431.Google Scholar
Morgans, M. E., and Trotter, W. R. (1958) Association of congenital deafness with goitre. The Lancet, I: 607–609.CrossRefGoogle Scholar
Nilsson, R. L., Borgfors, N., Gamstorp, I., Holst, H. E., and Lidén, G. (1964) Nonendemic goitre and deafness. Acta Paediatrica, 53: 117–131.CrossRefGoogle ScholarPubMed
Pendred, V. (1896) Deaf mutism and goitre. The Lancet, II: 532.CrossRefGoogle Scholar
Poschl, M. (1943) Der tomographische Querschnitt durch das Felsenbein. Fortschritte auf der Gebiete des Ronlgenstrahlen, 68: 174–179.Google Scholar
Remvig, J. (1969) Deaf-mutism and psychiatry. Acta Psychiatria Scandinavica, Supplement210.Google Scholar
Takeuchi, K., Suzuki, H., Horiuchi, Y., and Maskimo, K. (1970) Significance of iodine-perchlorate discharge test for detection of iodine organification defect of thyroid. Journal of Clinical Endocrinology, 31: 144–146.CrossRefGoogle Scholar
Vesterdal, J. (1957) Familial goitre: myxoedema and partial deafness in two sisters. Acta Paediatrica Scandinavica, 46: 629.Google Scholar
Vesterhauge, S., Zillstorff, K., and Månsson, A. (1982) A comparison between caloric test a. m. Hallpike Fitzgerald and computer analysis of electronystagmographic data. Acta Ototaryngologica, Supplement 386: 228–230.CrossRefGoogle Scholar