Waardenburg syndrome (WS) type 1: A Case Report

@inproceedings{Wadani2015WaardenburgS,
  title={Waardenburg syndrome (WS) type 1: A Case Report},
  author={Fahad Abdullah Al Wadani},
  year={2015}
}
Waardenburg syndrome (WS) is a rare autosomal dominant disorder characterized by congenital hearing loss, dystonia canthorum and hair and skin pigmentary disturbances. Depending on additional symptoms, WS is classified into four types which are WS1, WS2, WS3 and WS4. While WS1 and WS3 are attributed to mutations in PAX3, WS2 is heterogeneous, being caused by mutations in the microphthalmia-associated transcription factor gene in some but not all affected families. WS4 is attributed to mutations… CONTINUE READING