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Waardenburg syndrome
Author(s) -
Konno P,
Silm H
Publication year - 2001
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1046/j.0926-9959.2001.00286.x
Subject(s) - waardenburg syndrome , pax3 , medicine , hearing loss , congenital hearing loss , neural crest , loss function , dermatology , audiology , genetics , gene , phenotype , sensorineural hearing loss , transcription factor , biology
Abstract Waardenburg syndrome (WS) is caused by autosomal dominant mutations, and is characterized by pigmentary anomalies and various defects of neural crest derived tissues. We report a very interesting case of type 1 WS (WS 1) in an adult who presented all the symptoms characteristic of this syndrome. One particularly important clinical feature of WS is congenital hearing loss, which may severely handicap a child. A careful clinical description is useful to differentiate between various types of WS and other associated auditory–pigmentary syndromes. Type WS 1, characterized by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene.