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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...

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Autores principales: Rawlani, Shivlal M., Ramtake, Roshani, Dhabarde, Ajab, Rawlani, Sudhir S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
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.
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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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