The association of sensorineural hearing loss and pigmentation abnormalities in Waardenburg Syndrome

V. E. Newton, X. Z. Liu, A. Read

Research output: Contribution to journalArticle

3 Scopus citations


Sixty-four children aged 16 years and under, from 42 families, were examined clinically and audiologically. Twenty-four children had Waardenburg Syndrome (WS) Type I and 40 WS Type II. Fifty children had a sensorineural hearing loss, 16 with WS Type I and 34 with WS type II. Fifteen children with Type I and 30 with type II WS had bilateral hearing losses. The most frequent degree of hearing loss category in each syndrome type was a bilateral sensorineural hearing loss >100 db HL. Twelve children had an asymmetrical hearing loss, two with WS Type I and 10 with WS Type II. Pigmentation defects were not significantly more frequent in the hearing-impaired group then the normally hearing groups, in either WS Type I or WS Type II when the group as a whole was considered. There was a significantly higher frequency of pigmentation abnormalities when only those with a profound hearing loss were compared. Partial iris heterochromia occurred more frequently in WS Type II. No normally hearing child with WS Type I had iris heterochromia but there were three children with WS Type II. Hypoplastic blue eyes only occurred in conjunction with a profound bilateral hearing loss. Four children with WS Type I and 10 with WS Type II had a sensorineural hearing loss but no pigmentation defects.

Original languageEnglish (US)
Pages (from-to)69-77
Number of pages9
JournalJournal of Audiological Medicine
Issue number2
StatePublished - Jan 1 1994
Externally publishedYes



  • pigmentation defects
  • sensorineural hearing loss
  • Waardenburg Syndrome

ASJC Scopus subject areas

  • Otorhinolaryngology

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