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. 1977 Sep;29(5):468–485.

Heterogeneity in Waardenburg syndrome.

M J Hageman, J W Delleman
PMCID: PMC1685402  PMID: 331943

Abstract

Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two 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 two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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