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A Case of Waardenburg's Syndrome

Helen B. Pryor, MD
Am J Dis Child. 1971;122(2):177-178. doi:10.1001/archpedi.1971.02110020111020.
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Waardenburg, a Dutch ophthalmologist and geneticist, first described the syndrome bearing his name in 1948.1 He listed six components with varying degrees of penetrance as comprising the syndrome2: lateral displacement of the inner canthi in 99%, prominent root of the nose in 78%, meeting of the eyebrows in 45%, white forelock in 17%, heterochromia of the iris in 25%, and congenital deafness in 20%. Both sexes are affected, but deafness is more often found in males.

Waardenburg thought originally that the syndrome occurred only among Dutch people, but later authors have reported cases in several races and nationalities.3-6

Waardenburg's syndrome is often associated with cleft lip or palate or both. The lateral displacement of the inner canthi is combined with lateral displacement of the lacrimal ducts. The palpebral fissure is smaller than average because of blepharophimosis so that the eyeball medial to the pupil is partly covered


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