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Case of Waardenburg Shah syndrome in a family with review of literature
Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder w...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Chinese PLA General Hospital
2018
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291636/ https://www.ncbi.nlm.nih.gov/pubmed/30559775 http://dx.doi.org/10.1016/j.joto.2018.05.005 |
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author | Chandra Mohan, Setty.L.N. |
author_facet | Chandra Mohan, Setty.L.N. |
author_sort | Chandra Mohan, Setty.L.N. |
collection | PubMed |
description | Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease. Three genes have been bestowed so far in consociation with EDNRB, EDN3, and SOX10 genes. The pattern of inheritance is multifarious with the SOX10 mutation affiliation with autosomal dominant inheritance whereas the EDNRB and EDN3 genes are passed down in an autosomally recessive pattern. |
format | Online Article Text |
id | pubmed-6291636 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Chinese PLA General Hospital |
record_format | MEDLINE/PubMed |
spelling | pubmed-62916362018-12-17 Case of Waardenburg Shah syndrome in a family with review of literature Chandra Mohan, Setty.L.N. J Otol Review Article Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease. Three genes have been bestowed so far in consociation with EDNRB, EDN3, and SOX10 genes. The pattern of inheritance is multifarious with the SOX10 mutation affiliation with autosomal dominant inheritance whereas the EDNRB and EDN3 genes are passed down in an autosomally recessive pattern. Chinese PLA General Hospital 2018-09 2018-06-08 /pmc/articles/PMC6291636/ /pubmed/30559775 http://dx.doi.org/10.1016/j.joto.2018.05.005 Text en © 2018 PLA General Hospital Department of Otolaryngology Head and Neck Surgery. Production and hosting by Elsevier (Singapore) Pte Ltd. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Review Article Chandra Mohan, Setty.L.N. Case of Waardenburg Shah syndrome in a family with review of literature |
title | Case of Waardenburg Shah syndrome in a family with review of literature |
title_full | Case of Waardenburg Shah syndrome in a family with review of literature |
title_fullStr | Case of Waardenburg Shah syndrome in a family with review of literature |
title_full_unstemmed | Case of Waardenburg Shah syndrome in a family with review of literature |
title_short | Case of Waardenburg Shah syndrome in a family with review of literature |
title_sort | case of waardenburg shah syndrome in a family with review of literature |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291636/ https://www.ncbi.nlm.nih.gov/pubmed/30559775 http://dx.doi.org/10.1016/j.joto.2018.05.005 |
work_keys_str_mv | AT chandramohansettyln caseofwaardenburgshahsyndromeinafamilywithreviewofliterature |