We report a 3-year-old girl with autosomal dominant inherited Waardenburg 
syndrome type I showing circumscribed hypopigmentation of the skin, 
heterochromia iridis, sensorineural deafness, and dental aberrations. Clinical 
diagnosis was confirmed by the identification of an underlying missense mutation 
(C811T) in the PAX3 gene. Early diagnosis of Waardenburg syndrome among children 
with pigment anomalies enables a successful interdisciplinary medical care.