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Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS Type II

Published online by Cambridge University Press:  29 June 2007

Xuezhong Liu ,
Valerie Newton  and
Andrew Read
Xuezhong Liu*
Affiliation:
Centre for Audiology, Education of the Deaf and Speech Pathology, University of Manchester, Manchester M13 9PL. Department of Medical Geneticst, University of Manchester, Manchester M13 9PL.
Valerie Newton
Affiliation:
Centre for Audiology, Education of the Deaf and Speech Pathology, University of Manchester, Manchester M13 9PL.
Andrew Read
Affiliation:
Department of Medical Geneticst, University of Manchester, Manchester M13 9PL.
*
Address for correspondence: Dr Xuezhong Liu, Centre for Audiology, Education of the Deaf and Speech Pathology, University of Manchester, Manchester M13 9PL. Fax: 061-275-3519
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Abstract

Thirty families in which there were 149 individuals affected by the Waardenburg syndrome (WS) were investigated for penetrance of hearing loss and pigmentary abnormalities. Twenty two families contained 89 individuals affected by WS Type II and eight families with 60 individuals affected by Type I. A bilateral symmetrical sensorineural hearing loss was found to be the most common type of hearing loss. The most frequent degree of hearing loss category was a hearing loss of > 100dB HL with no difference between syndrome types.

Although there was no significant difference in the frequency of pigmentation disorders between Type I and II, considering these abnormalities as a whole, heterochromia irides was more common in Type II than Type I and other pigmentation disorders were more frequent in Type I: 62 per cent of Type I patients had more than one pigmentary defect, but only 28 per cent of Type II. Pigmentary disturbances were not significantly more frequent in the hearing impaired group than in the normally hearing group in either Type I or II when taking into account the occurrence of only one pigmentation disorder. There was a significantly higher proportion of pigmentary defects in the hearing impaired group with Type I when only those having more than one pigmentary abnormality were compared: 93.3 per cent of Type I patients and 88.5 per cent of Type II patients with a profound hearing loss had pigmentary defects. The frequency of pigmentation disorders was not greater when the hearing loss was more severe in either type. Penetrance for hearing loss and pigmentary abnormalities showed marked intrafamilial and interfamilial variation.

Keywords

Waardenburg's syndromeHearing loss, Pigmentation disorders

Information

Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 109 , Issue 2 , February 1995 , pp. 96 - 100
Copyright
Copyright © JLO (1984) Limited 1995

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