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Oral manifestation of Waardenburg syndrome: a case report and review of the literature

Waardenburg syndrome is a rare autosomal dominant genetic disorder of neural crest cell migration. It is characterized by congenital sensorineural hearing loss, heterochromia iridis, depigmentation of hair and skin, and increased intercanthal distance. It is subdivided into four subtypes with I and...

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Autores principales: Jagtap, Rohan, Srivastava, Ambika, Jadhav, Aniket, Gupta, Swati
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The British Institute of Radiology. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7709062/
https://www.ncbi.nlm.nih.gov/pubmed/33299596
http://dx.doi.org/10.1259/bjrcr.20200071
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author Jagtap, Rohan
Srivastava, Ambika
Jadhav, Aniket
Gupta, Swati
author_facet Jagtap, Rohan
Srivastava, Ambika
Jadhav, Aniket
Gupta, Swati
author_sort Jagtap, Rohan
collection PubMed
description Waardenburg syndrome is a rare autosomal dominant genetic disorder of neural crest cell migration. It is characterized by congenital sensorineural hearing loss, heterochromia iridis, depigmentation of hair and skin, and increased intercanthal distance. It is subdivided into four subtypes with I and II being most common. These subtypes are categorized based on genetic mutations. Although medical literature has well documented this syndrome, dental and radiographical findings have been rarely presented. In this case report and literature review, we have presented and discussed oral as well as head and neck radiology findings of a 20-year-old girl with Waardenburg syndrome.
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spelling pubmed-77090622020-12-08 Oral manifestation of Waardenburg syndrome: a case report and review of the literature Jagtap, Rohan Srivastava, Ambika Jadhav, Aniket Gupta, Swati BJR Case Rep Case Report Waardenburg syndrome is a rare autosomal dominant genetic disorder of neural crest cell migration. It is characterized by congenital sensorineural hearing loss, heterochromia iridis, depigmentation of hair and skin, and increased intercanthal distance. It is subdivided into four subtypes with I and II being most common. These subtypes are categorized based on genetic mutations. Although medical literature has well documented this syndrome, dental and radiographical findings have been rarely presented. In this case report and literature review, we have presented and discussed oral as well as head and neck radiology findings of a 20-year-old girl with Waardenburg syndrome. The British Institute of Radiology. 2020-06-24 /pmc/articles/PMC7709062/ /pubmed/33299596 http://dx.doi.org/10.1259/bjrcr.20200071 Text en © 2020 The Authors. Published by the British Institute of Radiology This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.
spellingShingle Case Report
Jagtap, Rohan
Srivastava, Ambika
Jadhav, Aniket
Gupta, Swati
Oral manifestation of Waardenburg syndrome: a case report and review of the literature
title Oral manifestation of Waardenburg syndrome: a case report and review of the literature
title_full Oral manifestation of Waardenburg syndrome: a case report and review of the literature
title_fullStr Oral manifestation of Waardenburg syndrome: a case report and review of the literature
title_full_unstemmed Oral manifestation of Waardenburg syndrome: a case report and review of the literature
title_short Oral manifestation of Waardenburg syndrome: a case report and review of the literature
title_sort oral manifestation of waardenburg syndrome: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7709062/
https://www.ncbi.nlm.nih.gov/pubmed/33299596
http://dx.doi.org/10.1259/bjrcr.20200071
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