Journal of the European Academy of Dermatology and Venereology · 2001 · 11 citations · 7 references
MedicineGeneticsMolecular GeneticsHuman GeneticsPediatric GeneticsPediatric OtolaryngologyCongenital DisordersCongenital Ear AnomaliesGenetic DisordersHearing ImpairmentHearing LossPigmentary DisordersAutosomal Dominant InheritanceCongenital Pigmentary DisordersLoss-of-function MutationsNeural Crest MorphogenesisSyndromic Ear MalformationsWaardenburg Syndrome Genetics
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.
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