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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The British Institute of Radiology.
2020
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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. |
format | Online Article Text |
id | pubmed-7709062 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | The British Institute of Radiology. |
record_format | MEDLINE/PubMed |
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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