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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2012
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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 |
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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 |
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