HETEROGENEITY IN WAARDENBURG SYNDROME

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  • 1 January 1977
    • journal article
    • review article
    • Vol. 29  (5) , 468-485
Abstract
Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1285 patients from the literature and 34 previously unreported patients in 5 families in the Netherlands. The syndrome seems to consist of 2 genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the 2 types of the syndrome was found in 1/4 with type I and about half of the patients with type II. This difference has important consequences for genetic counseling.