Waardenburg Syndrome; A case series

Authors

  • Zareen Saqib Khawaja Muhammad Safdar Medical College Sialkot. Pakistan
  • zahida rani Government Khawaja Muhammad Safdar Medical College

Keywords:

Waardenberg syndrome, piebaldism, dystopia canthorum, Synophrys

Abstract

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.

Author Biographies

Zareen Saqib, Khawaja Muhammad Safdar Medical College Sialkot. Pakistan

Assistant Professor Dermatology

zahida rani, Government Khawaja Muhammad Safdar Medical College

Professor and head of department Dermatology,

References

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.

Downloads

Published

2018-05-27

How to Cite

1.
Saqib Z, rani zahida. Waardenburg Syndrome; A case series. J Pak Assoc Dermatol [Internet]. 2018May27 [cited 2025Mar.17];27(4):397-400. Available from: https://www.jpad.com.pk/index.php/jpad/article/view/1158

Similar Articles

You may also start an advanced similarity search for this article.

Most read articles by the same author(s)

1 2 3 4 5 > >>