Waardenburg syndrome type2 in a 10 month old infant; a case report

(Received 17 August, 2009 ; Accepted 9 December, 2009)AbstractBackground and purpose: Waardenburg syndrome (WS) is a rare disease characterized by sensor neural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues. WS is caused by mutations in the microphthalmia-associated with transcription factor gene.Materials and methods: This case is a 10 month old infant girl in which during a routine physical examination found that she has hetetrochromia and unilateral hearing loss. Regard to waardenburg syndrome criteria Type 2, this case report was diagnosed as WS.Results: WS is classified into four types. WS 2 is characterized by sensorineural hearing loss, lateral displacement of medial canthi (dystopia canthorum), pigmentary disorders of eyes, hair, and skin.Conclusion: Waardenburg syndrome can be diagnosed easily in the first few months of life, due to prominent phenotypic features. Earlier diagnosis means a more successful rehabilitation of hearing.J Mazand Univ Med Sci 2009; 19(72): 77-80 (Persian).