Abstract

Introduction: Waardenburg syndrome (WS) is a disorder of neural crest cell migration. WS was initially described as a genetic disorder with an autosomal dominant pattern of inheritance, associated with depigmentation abnormalities and sensorineural hearing loss. However, recently WS is known to be a clinically and genetically heterogeneous disorder with characteristic clinical features that include sensorineural hearing loss (SNHL), heterochromia iridis and pigmentary abnormalities of hair and skin (1). Case Report: A case of 16-year-old female showing the characteristic features of WS but no familial history of WS was reported. Conclusion: The presented features are characteristic features of Waardenburg syndrome with dental abnormalities associated with WS but with no familial history for WS proving the heterogeneity in the mode of inheritance and the clinical features of this syndrome. In this case an orthodontic treatment was planned for the patient as well as referring her for an ophthalmologist and hearing specialist.

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