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Waardenburg syndrome: A rare case
Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991067/ https://www.ncbi.nlm.nih.gov/pubmed/29930451 http://dx.doi.org/10.4103/ojo.OJO_51_2014 |
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author | Rawlani, Shivlal M. Ramtake, Roshani Dhabarde, Ajab Rawlani, Sudhir S. |
author_facet | Rawlani, Shivlal M. Ramtake, Roshani Dhabarde, Ajab Rawlani, Sudhir S. |
author_sort | Rawlani, Shivlal M. |
collection | PubMed |
description | Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported. |
format | Online Article Text |
id | pubmed-5991067 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-59910672018-06-21 Waardenburg syndrome: A rare case Rawlani, Shivlal M. Ramtake, Roshani Dhabarde, Ajab Rawlani, Sudhir S. Oman J Ophthalmol Clinical Image Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported. Medknow Publications & Media Pvt Ltd 2018 /pmc/articles/PMC5991067/ /pubmed/29930451 http://dx.doi.org/10.4103/ojo.OJO_51_2014 Text en Copyright: © 2018 Oman Ophthalmic Society http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Clinical Image Rawlani, Shivlal M. Ramtake, Roshani Dhabarde, Ajab Rawlani, Sudhir S. Waardenburg syndrome: A rare case |
title | Waardenburg syndrome: A rare case |
title_full | Waardenburg syndrome: A rare case |
title_fullStr | Waardenburg syndrome: A rare case |
title_full_unstemmed | Waardenburg syndrome: A rare case |
title_short | Waardenburg syndrome: A rare case |
title_sort | waardenburg syndrome: a rare case |
topic | Clinical Image |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991067/ https://www.ncbi.nlm.nih.gov/pubmed/29930451 http://dx.doi.org/10.4103/ojo.OJO_51_2014 |
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