Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports

Branchio-oto-renal syndrome is a rare genetic disorder that affects multiple organ systems. Temporal bone abnormalities include the unwound appearance of the cochlea which is common in this syndrome. This appearance can prompt renal imaging and evaluation. Presented here are two cases of branchio-ot...

Descripción completa

Detalles Bibliográficos
Autores principales: Williams, Lelia E, Sohner, Mark T, Sibley, Robert C, Pfeifer, Cory M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661797/
https://www.ncbi.nlm.nih.gov/pubmed/31384484
http://dx.doi.org/10.1177/2058460119861606
_version_ 1783439528464220160
author Williams, Lelia E
Sohner, Mark T
Sibley, Robert C
Pfeifer, Cory M
author_facet Williams, Lelia E
Sohner, Mark T
Sibley, Robert C
Pfeifer, Cory M
author_sort Williams, Lelia E
collection PubMed
description Branchio-oto-renal syndrome is a rare genetic disorder that affects multiple organ systems. Temporal bone abnormalities include the unwound appearance of the cochlea which is common in this syndrome. This appearance can prompt renal imaging and evaluation. Presented here are two cases of branchio-oto-renal syndrome with dysplastic cochleae. A branchial cleft sinus and renal dysplasia were also present in one of the cases.
format Online
Article
Text
id pubmed-6661797
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher SAGE Publications
record_format MEDLINE/PubMed
spelling pubmed-66617972019-08-05 Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports Williams, Lelia E Sohner, Mark T Sibley, Robert C Pfeifer, Cory M Acta Radiol Open Case Report Branchio-oto-renal syndrome is a rare genetic disorder that affects multiple organ systems. Temporal bone abnormalities include the unwound appearance of the cochlea which is common in this syndrome. This appearance can prompt renal imaging and evaluation. Presented here are two cases of branchio-oto-renal syndrome with dysplastic cochleae. A branchial cleft sinus and renal dysplasia were also present in one of the cases. SAGE Publications 2019-07-26 /pmc/articles/PMC6661797/ /pubmed/31384484 http://dx.doi.org/10.1177/2058460119861606 Text en © The Foundation Acta Radiologica 2019 http://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 (http://www.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
Williams, Lelia E
Sohner, Mark T
Sibley, Robert C
Pfeifer, Cory M
Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports
title Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports
title_full Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports
title_fullStr Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports
title_full_unstemmed Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports
title_short Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports
title_sort multimodality depiction of findings in branchio-oto-renal syndrome: two case reports
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661797/
https://www.ncbi.nlm.nih.gov/pubmed/31384484
http://dx.doi.org/10.1177/2058460119861606
work_keys_str_mv AT williamsleliae multimodalitydepictionoffindingsinbranchiootorenalsyndrometwocasereports
AT sohnermarkt multimodalitydepictionoffindingsinbranchiootorenalsyndrometwocasereports
AT sibleyrobertc multimodalitydepictionoffindingsinbranchiootorenalsyndrometwocasereports
AT pfeifercorym multimodalitydepictionoffindingsinbranchiootorenalsyndrometwocasereports

Ejemplares similares