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Possible homozygous Waardenburg syndrome in a fetus with exencephaly

✍ Scribed by Aymé, Ségolène ;Philip, Nicole

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 297 KB
Volume: 59
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320590227

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✦ Synopsis

Waardenburg syndrome [WS] is a combination of deafness and pigmentary disturbances, inherited as an autosomal-dominant condition. The full syndrome comprises congenital nonprogressive bilateral sensorineural deafness, heterochromia irides, white forelock, and patches of white, depigmented skin. All these manifestations are variable, and affected individuals seldom show all of them. Clinically, WS is classified into three types: type 1 [WSl, MIM 1935001, type 2 [WS2, MIM 1935101, and type 3 [WS3, MIM 1488201. In type 1, patients have a dystopia canthorum, a broad nasal root, high nasal bridge, and hypoplastic alae nasi. In type 2, patients lack the outward displacement of the inner canthi. In type 3, patients have, in addition to the characteristics of type 1, contractures or reductions of the shoulder and arm muscles.

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