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Hearing loss and Waardenburg's syndrome: Implications for genetic counselling

Published online by Cambridge University Press:  29 June 2007

Valerie Newton
Valerie Newton*
Affiliation:
Manchester
*
Dr Valerie E. Newton, MD, MSc Department of Educational StudiesUniversity of ManchesterOxford RoadManchester M13 9PL.
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Abstract

Ten families in which there were 79 individuals affected by Waardenburg's syndrome were examined for penetrance of sensorineural hearing loss and expressivity of the gene. There were 47 with Waardenburg syndrome Type 1 and 32 with Waardenburg syndrome Type II. Penetrance of senorineural hearing loss was calculated after exclusion of the probands and was found not to be significantly different between each syndrome type but to show marked interfamilial variation. A bilateral sensorineural hearing loss was present more frequently than unilateral with the proportion varying between families. Certain audiometric shapes were found to recur in the syndrome but, apart from possibly one asymmetric configuration, seem to have been described also in other conditions. The degree of hearing loss was very variable within and between families. The implications for genetic counselling are discussed and the advantages of basing risk factors upon individual families rather than syndrome types emphasized.

Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 104 , Issue 2 , February 1990 , pp. 97 - 103
Copyright
Copyright © JLO (1984) Limited 1990

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References

Anderson, H. and Wedenberg, E. (1968) Audiometric identification of normal hearing carriers of genes for deafness. Acta Otolaryngologica, 65: 535–554.CrossRefGoogle ScholarPubMed
Arias, S. (1971) Genetic Heterogeneity in the Waardenburg Syndrome. Birth Defects: Original Article Series, 7: 87–101.Google Scholar
Arias, S. and Mota, M. (1978) Apparent non-penetrance for dystopia in Waardenburg syndrome Type I with some hints on the diagnosis of dystopia canthorum. Journal de Genetique Humaine, 26: 101–131.Google ScholarPubMed
DiGeorge, A. M., Olmsted, R. W. and Harley, R. D. (1960) Waardenburg's syndrome. Journal of Pediatrics, 57: 649–669.CrossRefGoogle ScholarPubMed
Fisch, L. (1959) Deafness as part of an hereditary syndrome. Journal of Laryngology and Otology, 73: 355–382.CrossRefGoogle ScholarPubMed
Fraser, G. R. (1976) The causes of profound deafness in childhood. John Hopkins University Press, Baltimore.Google Scholar
Goldberg, M. F. (1966) Waardenburg's syndrome with fundus and other anomalies. Archives of Ophthalmology, 76: 797–810.CrossRefGoogle ScholarPubMed
Hageman, M. J. (1977) Audiometric findings in 34 patients with Waardenburg's syndrome. Journal of Laryngology and Otology, 9: 575–584.CrossRefGoogle Scholar
Hageman, M. J. and Delleman, J. W. (1977) Heterogeneity in Waardenburg's syndrome. American Journal of Human Genetics, 29: 468–485.Google Scholar
Hine, W. D. (1973) How deaf are deaf children? British Journal of Audiology, 7: 41–44.CrossRefGoogle Scholar
Hood, J. D. (1957) The principles and practice of bone conduction audiometry: A review of the present position. Proceedings of the Royal Society of Medicine, 50: 689–697.CrossRefGoogle ScholarPubMed
Konigsmark, B. W., Mengel, M. and Berlin, C. I. (1971) Familial low frequency hearing loss. Laryngoscope, 81: 759–771.CrossRefGoogle ScholarPubMed
Partington, M. W. (1964) Waardenburg's syndrome and heterochromia iridum in a deaf school population. Canadian Medical Association Journal, 90: 1008–1017.Google Scholar
Partsch, C. J. (1962) Hereditare Taubheit beim syndrom nach Waardenburg-Klein. Laryngologie, Rhinologie, Otologie (Stuttgart), 41: 752–762.Google Scholar
Reed, W. B., Stone, V. M., Boder, E. and Ziprkowski, L. (1967) Pigmentary disorders in association with congenital deafness. Archives of Dermatology, 95: 176–186.CrossRefGoogle ScholarPubMed
Robinson, D. W. and Shipton, M. S. (1977) Tables for the estimation of noise-induced hearing loss. National Physics Laboratory Report, No.61.Google Scholar
Robinson, G. C. and Wright, W. J. (1968) Sensorineural hearing loss and congenital heterochromia iridum. American Journal of Diseases of Children, 116: 106–109.CrossRefGoogle ScholarPubMed
Shipton, M. S. (1977) Tables relating pure tone audiometric threshold to age. National Physics Laboratory Acoustics Report, No.94.Google Scholar
Soussi-Tsafrir, J. (1974) Light-negroes and the Klein-Waardenburg syndrome. MacMillan, London.Google Scholar
Waardenburg, P. J. (1951) A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. American Journal of Human Genetics, 3: 195–253.Google ScholarPubMed