国际眼科病理学杂志

Waardenburg syndrome (WS) type 1: A Case Report

Fahad Al wadani

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 in the endothelin-3 or the endothelin-B receptor genes and SOX10 gene. Waardenburg syndrome (WS) type I is a nonprogressive auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum (lateral displacement of the inner canthi). This paper presents a case of 9 months old male child with WS type I, which to best of the author’s knowledge is the first reported case in the whole Eastern Province of Saudi Arabia.

Case presentation: We present a 9 months old male child which attended the regular clinic with features of Waardenburg syndrome type I as dystonia canthorum, heterochromiairidis and skin pigmentations anomalies.

Conclusion: Early recognition of Waardenberg syndrome is important to decrease the incidence of associated complications.