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Nigerian Journal of Ophthalmology

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Waardenburg's Syndrome in a Nigerian Family

O.O Onabolu

Abstract


Waardenburg's Syndrome {WS} is described in two girls of a Nigerian family. Both girls presented with white forelock, heterochromia irides and sensorineural deafness. WS is inherited as an autosomal dominant gene with variable penetrance and phenotypic expression. It is divided into four clinical sub types according to mutations in the genes responsible for melanocyte proliferation and differentiation. There is no history suggestive of Waardenburgs syndrome in this family. The wide difference between the ages of the father and the mother {30years}, and the old age of the father {65 years} is believed to be responsible for a new mutant gene in the family. Deafness, which is the most disabling feature of this syndrome should be identified early to prepare the child for proper education.


KEY WORDS: Waardenburg's Syndrome, genetic mutation, deafness.


[Nig. J. Ophthalmology Vol.10(1): 32-34]



http://dx.doi.org/10.4314/njo.v10i1.11905
AJOL African Journals Online