Waardenburg Syndrome; A case series
DOI:
https://doi.org/10.66344/jpad.v27i4.1158Keywords:
Waardenberg syndrome, piebaldism, dystopia canthorum, SynophrysAbstract
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.
References
1. Jalilian N, Tabatabaiefar MA, Yazdanpanah M, Darabi E, Bahrami T, Zekri A et al. A comprehensive genetic and clinical evaluation of Waardenburg syndrome type II in a set of Iranian patients. Int J Mol Cell Med. 2018;7(1):0-0.
2. Hayat N, Cheema A. A case series on Waardenburg syndrome. Pak J Ophthalmol. 2014;30:175-7.
3. Ghosh SK, Bandyopadhyay D, Ghosh A et al. Waardenburg syndrome: A report of three cases. Indian J Dermatol Venereal Leprol. 2010;76:550-2.
4. Chen Y, Yang F, Zheng H, Zhou J, Zhu G, Hu P et al. Clinical and genetic investigations of families with type II Waardenburg syndrome. Molecul Medic Report. 2016;13:1983-8.
5. 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. BMJ Open. 2013;3:e001917.doi:10.1136.
Downloads
Published
Issue
Section
License
Copyright (c) 2018 Zareen Saqib, zahida rani
This work is licensed under a Creative Commons Attribution 4.0 International License.
Submission declaration
Authors retain the copyright to their work and grant the 'Journal of Pakistan Association of Dermatologists (JPAD)' the right of first publication under a Creative Commons Attribution 4.0 International (CC BY 4.0) license. This license allows others to share, adapt, and reuse the work for any purpose, including commercial use, as long as appropriate credit is given to the original authors and the journal.
By submitting a manuscript, authors confirm that the work has not been published previously (except as an abstract, lecture, or academic thesis), is not under review elsewhere, and has been approved by all authors and relevant authorities. Once accepted, the article will be openly accessible under the CC BY 4.0 license, ensuring wide dissemination and reuse with proper attribution.
