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Indian J Otolaryngol Head Neck Surg. 2004 Oct;56(4):300-2. doi: 10.1007/BF02974395.

Waardenburg syndrome.

Author information

  • 1Department of E.N.T., P.D.U Medical College, 308, Arti Apartment, Kashivishwanath Plot Main Road, Behind Circuit House, 360 001 Rajkot, Gujarat.

Abstract

We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of skin and hearing loss.Here we report a patient having severe bilateral hearing loss with pigmentary disturbances.

KEYWORDS:

Congenital Hearing Loss; Heredofamilial Deafness; Waardenburg Syndrome

PMID:
23120104
[PubMed]
PMCID:
PMC3451142
Free PMC Article
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