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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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Autor principal: Chandra Mohan, Setty.L.N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chinese PLA General Hospital 2018
Materias:
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.
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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.
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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
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