A 29-year old Sri Lankan lady, born in Manipay, Jaffna, presented with congenital deafness, brilliant blue colour iris, premature greying of hair, medial eye brow flare (synophrys) and broad nasal bridge with dystopia canthorum. We diagnosed Waardenburg syndrome (WS) type-1. Mainstay of management of this syndrome is genetic counselling and attending to sensorineural hearing loss. We arranged a hearing aid for her. It improved her quality of life and social communication.
How to Cite:
Jeyakanth, T., Mayurathan, P. and Sivansuthan, S., 2015. Waardenburg syndrome type-1 in a Sri Lankan patient. Anuradhapura Medical Journal, 9(2), pp.27–29. DOI: http://doi.org/10.4038/amj.v9i2.7533