A RARE CASE OF WAARDENBURG SYNDROME - CASE REPORT
Abstract
Waardenburg syndrome is a rare disease characterized by sensorineural deafness associated with pigmentary anomalies and defects of neural crest derivative tissues. Waardenburg syndrome also known as Waardenburg Shah Syndrome , Waardenburg Klein syndrome , Mendes syndrome II , Van der Hoeve Halbertsma- Waardenburg syndrome.The frequency of Waardenburg syndrome is estimated to be 1 case per 212000 persons in general population but owing to low penetrance of about 20 the frequency of entire syndrome is approximately 1 in 42000.Children with Waardenburg syndrome have normal life expectancy .morbidity is due to eye disorders , deafness , mental retardation skeletal anomalies. The following article is a case report of Waardenburg syndrome which presented to our opd with eye manifestations .
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Retina and Vitreous section 12 , American Academy of Ophthalmology 256
Waardenburg PJ (1951) A new syndrome com ining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital
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