Cargando…

Waardenburg syndrome: A rare genetic disorder, a report of two cases

Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cas...

Descripción completa

Detalles Bibliográficos
Autores principales: Kumar, Sudesh, Rao, Kiran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491306/
https://www.ncbi.nlm.nih.gov/pubmed/23162308
http://dx.doi.org/10.4103/0971-6866.100804
_version_ 1782248970408427520
author Kumar, Sudesh
Rao, Kiran
author_facet Kumar, Sudesh
Rao, Kiran
author_sort Kumar, Sudesh
collection PubMed
description Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated.
format Online
Article
Text
id pubmed-3491306
institution National Center for Biotechnology Information
language English
publishDate 2012
publisher Medknow Publications & Media Pvt Ltd
record_format MEDLINE/PubMed
spelling pubmed-34913062012-11-16 Waardenburg syndrome: A rare genetic disorder, a report of two cases Kumar, Sudesh Rao, Kiran Indian J Hum Genet Case Report Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3491306/ /pubmed/23162308 http://dx.doi.org/10.4103/0971-6866.100804 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kumar, Sudesh
Rao, Kiran
Waardenburg syndrome: A rare genetic disorder, a report of two cases
title Waardenburg syndrome: A rare genetic disorder, a report of two cases
title_full Waardenburg syndrome: A rare genetic disorder, a report of two cases
title_fullStr Waardenburg syndrome: A rare genetic disorder, a report of two cases
title_full_unstemmed Waardenburg syndrome: A rare genetic disorder, a report of two cases
title_short Waardenburg syndrome: A rare genetic disorder, a report of two cases
title_sort waardenburg syndrome: a rare genetic disorder, a report of two cases
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491306/
https://www.ncbi.nlm.nih.gov/pubmed/23162308
http://dx.doi.org/10.4103/0971-6866.100804
work_keys_str_mv AT kumarsudesh waardenburgsyndromeararegeneticdisorderareportoftwocases
AT raokiran waardenburgsyndromeararegeneticdisorderareportoftwocases