Cover Image

A RARE CASE OF WAARDENBURG SYNDROME - CASE REPORT

PALLAVI KAMATH

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 .


Full Text:

PDF

References


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

deafness. Am J Hum Genet 3(3):195253 3.Read AP Waardenburg syndrome adv otorhinolaryngology 2000-56:32-8 4.Clinical ophthalmology - a systemic approach by Kanski 5 The eye pathologist - Waardenburg syndrome - Duke University 6.Nelsons text book of paediatrics 18 ed .


Refbacks

  • There are currently no refbacks.


Creative Commons License
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.

An Initiative of The Tamil Nadu Dr MGR Medical University