Waardenburg Syndrome in an 8 Year Old African Child: Case Report
Journal Title: Journal of Advances in Medicine and Medical Research - Year 2017, Vol 21, Issue 9
Abstract
Aim: Waardenburg syndrome is a very rare condition, inherited autosomally with genetic heterogeneity and characterized by deafness, hair discoloration, iris discoloration and eyelid changes. Case Report: We report a case of an 8 year old female child with a history of a striking difference between the eyes since birth. Ocular examination revealed slightly widened medial canthal distances and hypertelorism. There was a lateral displacement of the right inner canthi [Dystopia Canthorum]. The Iris was hypopigmented and bluish in colour in the right eye, whilst the left Iris was brown and darkly pigmented. Discussion: The diagnosis of WS is considered if there are 2 major or 1 major and 2 minor criteria according to Waardenburg consortium. Our patient had 2 major criteria viz pigmentary disturbances of the iris and dystopia canthorum. Waardenburg syndrome is sub classified into 4 types. The management of Waardenburg's syndrome, comprises early detection and referral to the appropriate unit including audiology, correction for refractive error and use of cosmetic contact lenses. Conclusion: Waardenburg syndrome is a rare disease. In all suspected patient, hearing impairment, severe musculoskeletal contractures and Hirschsprungs disease should be ruled out.
Authors and Affiliations
V. Odogu, I. O. Chukwuka, N. Chinawa
Keywords
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- EP ID EP311735
- DOI 10.9734/BJMMR/2017/32921
- Views 94
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