Waardenburg Syndrome; A case series

Zareen Saqib, zahida rani


Waardenburg syndrome is a rare autosomal disorder with heterogeneous manifestations including sensorineural deafness, piebaldism, heterochromic irides, synophrys and dystopia canthorum. We report this case for its rarity and presence of freckles, a finding which has not been reported in association with WS in this part of world so far.


Waardenberg syndrome; piebaldism; dystopia canthorum; Synophrys

Full Text:



Jalilian N,Tabatabaiefar MA, Yazdanpanah M et al, A comprehensive genetic and clinical evaluation of Waardenburg syndrome type II in a set of Iranian patients. Int J Mol Cell Med2018; 7(1):0-0.

Hayat N, Cheema A. A case series on Waardenberg syndrome. Pak J Ophthalmol 2014; 30.

Ghosh SK, Bandyopadhyay D, Ghosh A et al. Waarenburg syndrome: A report of three cases. Ind J Dermatol Venereal Leprol 2010; 76(5): 550-2.

Chen Y, Yang F, Zheng H et al. Clinical and genetic investigations of families with type II Waardenburg syndrome. Molecul Medic Report 2016; 13: 1983-8.

Wildhart G, Zirn B, Graui-Neumann LM et al. Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics. BMJopen 2013;3:e001917.doi:10.1136.


  • There are currently no refbacks.

ISSN: 1560-9014