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Waardenburg syndrome.

Manish Mehta¹, Paresh Kavadu, Sachin Chougule

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

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|November 3, 2012

Summary

This case study presents Waardenburg syndrome in a 2-year-old girl, highlighting severe hearing loss and pigmentary issues. Waardenburg syndrome is a genetic disorder affecting vision and hearing.

Keywords:

Congenital Hearing Loss Heredofamilial Deafness Waardenburg Syndrome

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Area of Science:

Genetics
Ophthalmology
Audiology

Background:

Waardenburg syndrome, described by Petrus Johannes Waardenburg in 1951, is a genetic disorder.
It is characterized by retinal pigmentary differences, hearing loss, and dystopia canthorum.
The condition follows a dominant inheritance pattern with variable clinical presentations.

Purpose of the Study:

To report a case of Waardenburg syndrome in a pediatric patient.
To describe the clinical presentation including severe bilateral hearing loss and pigmentary disturbances.

Main Methods:

Case report.
Clinical examination and audiological assessment.

Main Results:

A 2-year-old female child presented with Waardenburg syndrome.
The patient exhibited severe bilateral hearing loss.
Associated pigmentary disturbances were noted.

Conclusions:

Waardenburg syndrome can manifest with significant hearing impairment and pigmentary abnormalities.
Early diagnosis and management are crucial for affected individuals.