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Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review
Branchial cleft abnormality is a common congenital neck malformation in children, which is caused by the abnormal development of the gill sac or gill groove. It is mainly manifested as a cyst in the sinus tract and fistula in the neck, as well as branchio-oto-renal syndrome (BORS). As a rare autosom...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7375735/ https://www.ncbi.nlm.nih.gov/pubmed/32689865 http://dx.doi.org/10.1177/0300060520926363 |
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author | Li, Hong-Xia Zhou, Peng Tong, Min Zheng, Yan |
author_facet | Li, Hong-Xia Zhou, Peng Tong, Min Zheng, Yan |
author_sort | Li, Hong-Xia |
collection | PubMed |
description | Branchial cleft abnormality is a common congenital neck malformation in children, which is caused by the abnormal development of the gill sac or gill groove. It is mainly manifested as a cyst in the sinus tract and fistula in the neck, as well as branchio-oto-renal syndrome (BORS). As a rare autosomal dominant genetic disease, the typical manifestations of BORS are hearing loss, abnormal branchial cleft development and renal dysplasia. In this paper, a patient was admitted to the hospital for bilateral branchial cleft fistulas combined with bilateral anterior auricular fistulas, auricular appendix, auricle dysplasia, external auditory canal stenosis, and hearing loss. The patient was diagnosed with BORS, and underwent fistulectomy of the neck and anterior ear, external auditory canal formation, and tympanoplasty. The aim of this report is to strengthen clinicians’ understanding of BORS and reduce the rate of clinical missed diagnosis through our case report and literature review. |
format | Online Article Text |
id | pubmed-7375735 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-73757352020-07-31 Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review Li, Hong-Xia Zhou, Peng Tong, Min Zheng, Yan J Int Med Res Case Report Branchial cleft abnormality is a common congenital neck malformation in children, which is caused by the abnormal development of the gill sac or gill groove. It is mainly manifested as a cyst in the sinus tract and fistula in the neck, as well as branchio-oto-renal syndrome (BORS). As a rare autosomal dominant genetic disease, the typical manifestations of BORS are hearing loss, abnormal branchial cleft development and renal dysplasia. In this paper, a patient was admitted to the hospital for bilateral branchial cleft fistulas combined with bilateral anterior auricular fistulas, auricular appendix, auricle dysplasia, external auditory canal stenosis, and hearing loss. The patient was diagnosed with BORS, and underwent fistulectomy of the neck and anterior ear, external auditory canal formation, and tympanoplasty. The aim of this report is to strengthen clinicians’ understanding of BORS and reduce the rate of clinical missed diagnosis through our case report and literature review. SAGE Publications 2020-07-21 /pmc/articles/PMC7375735/ /pubmed/32689865 http://dx.doi.org/10.1177/0300060520926363 Text en © The Author(s) 2020 https://creativecommons.org/licenses/by-nc/4.0/ Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Case Report Li, Hong-Xia Zhou, Peng Tong, Min Zheng, Yan Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review |
title | Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review |
title_full | Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review |
title_fullStr | Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review |
title_full_unstemmed | Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review |
title_short | Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review |
title_sort | branchial cleft fistula to branchio-oto-renal syndrome: a case report and literature review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7375735/ https://www.ncbi.nlm.nih.gov/pubmed/32689865 http://dx.doi.org/10.1177/0300060520926363 |
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