Typical facial appearances of WS. (A) Heterozygote for WS1

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Typical facial appearances of WS. (A) Heterozygote for WS1 Typical facial appearances of WS. (A) Heterozygote for WS1. Note the dystopia canthorum, medial eyebrow flaring, typical nose, and white forelock. There is unilateral sensorineural hearing loss. This boy has a complete deletion of the PAX3 gene. (B) Heterozygote for WS2. Note the normal build of the face, with heterochromia (left eye blue, right eye brown with a blue segment). There is a bilateral 45-dB hearing loss. She has a splice-site mutation of the MITF gene. (C) Homozygote for WS1. Note the extreme dystopia, extensive depigmentation, and severe amyoplasia. There is profound bilateral hearing loss. This child is homozygous for the PAX3 mutation S84F; pictures of him as a baby were published by Zlotogora et al.27 (Photo courtesy of Dr. Joel Zlotogora.) Source: Waardenburg Syndrome, The Online Metabolic and Molecular Bases of Inherited Disease Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: https://ommbid.mhmedical.com/DownloadImage.aspx?image=/data/books/971/ch244fg3.png&sec=62663520&BookID=971&ChapterSecID=62663504&imagename= Accessed: November 05, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved