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Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome

✍ Scribed by Hennekam, Raoul C.M.; Gorlin, Robert J.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 277 KB
Volume: 65
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961016)65:2<146::aid-ajmg13>3.0.co;2-q

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✦ Synopsis

The Yemenite deaf-blind hypopigmentation syndrome is a rare disorder characterized by severe early hearing loss, microcornea and colobomata, atnd cutaneous pigmentation abnormalities. A girl with similar skin symptoms and hearing loss, but no microcornea or colobomata is described and compared to other reported patients.

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