A Case Series of Waardenberg Syndrome

Authors

  • Nausheen Hayat, Alyscia Cheema

DOI:

https://doi.org/10.36351/pjo.v30i3.277

Abstract

Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations1. We report here a case series of patients of a single family, presented with assemblage of complete heterochromia, dystopia canthorum, synophrys and broad nasal root. Other family members with presence of heterochromia and telecanthus have been delineated in pedigree. In our case series second generation of family also found to be affected, which is rarely reported till now. To our knowledge no local cases have been reported till date.
Key words: Waardenberg syndrome, Heterochromia, Telecanthus.

Downloads

Published

27-11-2018

How to Cite

1.
Alyscia Cheema NH. A Case Series of Waardenberg Syndrome. pak J Ophthalmol [Internet]. 2018 Nov. 27 [cited 2024 Mar. 28];30(3). Available from: https://www.pjo.org.pk/index.php/pjo/article/view/277

Issue

Section

Review Articles