Skip to main content
Advertisement

Main menu

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home

User menu

  • Alerts
  • Log in

Search

  • Advanced search
American Journal of Neuroradiology
American Journal of Neuroradiology

American Journal of Neuroradiology

ASHNR American Society of Functional Neuroradiology ASHNR American Society of Pediatric Neuroradiology ASSR
  • Alerts
  • Log in

Advanced Search

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home
  • Follow AJNR on Twitter
  • Visit AJNR on Facebook
  • Follow AJNR on Instagram
  • Join AJNR on LinkedIn
  • RSS Feeds

AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Research ArticleHead & Neck

The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome

A. Hsu, N. Desai and M.J. Paldino
American Journal of Neuroradiology December 2018, 39 (12) 2345-2349; DOI: https://doi.org/10.3174/ajnr.A5856
A. Hsu
aFrom the Department of Radiology, Texas Children's Hospital, Houston, Texas.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for A. Hsu
N. Desai
aFrom the Department of Radiology, Texas Children's Hospital, Houston, Texas.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for N. Desai
M.J. Paldino
aFrom the Department of Radiology, Texas Children's Hospital, Houston, Texas.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for M.J. Paldino
  • Article
  • Figures & Data
  • Info & Metrics
  • Responses
  • References
  • PDF
Loading

References

  1. 1.↵
    1. Ginat DT,
    2. Ferro L,
    3. Gluth MB
    . Anatomic and quantitative temporal bone CT for preoperative assessment of branchio-oto-renal syndrome. Clin Neuroradiol 2016;26:481–83 doi:10.1007/s00062-016-0502-7 pmid:26869444
    CrossRefPubMed
  2. 2.↵
    1. Lindau TA,
    2. Cardoso AC,
    3. Rossi NF, et al
    . Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review. Int Arch Otorhinolaryngol 2014;18:68–76 doi:10.1055/s-0033-1358659 pmid:25992067
    CrossRefPubMed
  3. 3.↵
    1. Robson CD
    . Congenital hearing impairment. Pediatr Radiol 2006;36:309–24 doi:10.1007/s00247-005-0042-9 pmid:16465539
    CrossRefPubMed
  4. 4.↵
    1. Huang BY,
    2. Zdanski C,
    3. Castillo M
    . Pediatric sensorineural hearing loss, Part 2: syndromic and acquired causes. AJNR Am J Neuroradiol 2012;33:399–406 doi:10.3174/ajnr.A2499 pmid:21596810
    Abstract/FREE Full Text
  5. 5.↵
    1. Huang BY,
    2. Zdanski C,
    3. Castillo M
    . Pediatric sensorineural hearing loss, Part 1: practical aspects for neuroradiologists. AJNR Am J Neuroradiol 2012;33:211–17 doi:10.3174/ajnr.A2498 pmid:21566008
    Abstract/FREE Full Text
  6. 6.↵
    1. Bellini C,
    2. Piaggio G,
    3. Massocco D, et al
    . Branchio-oto-renal syndrome: a report on nine family groups. Am J Kidney Dis 2001;37:505–09 doi:10.1053/ajkd.2001.22074 pmid:11228174
    CrossRefPubMedWeb of Science
  7. 7.↵
    1. Morisada N,
    2. Nozu K,
    3. Iijima K
    . Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. Pediatr Int 2014;56:309–14 doi:10.1111/ped.12357 pmid:24730701
    CrossRefPubMed
  8. 8.↵
    1. Chang EH,
    2. Menezes M,
    3. Meyer NC, et al
    . Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat 2004;23:582–89 doi:10.1002/humu.20048 pmid:15146463
    CrossRefPubMedWeb of Science
  9. 9.↵
    1. Song MH,
    2. Kwon TJ,
    3. Kim HR, et al
    . Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome. PLoS One 2013;8:e67236 doi:10.1371/journal.pone.0067236 pmid:23840632
    CrossRefPubMed
  10. 10.↵
    1. Propst EJ,
    2. Blaser S,
    3. Gordon KA, et al
    . Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope 2005;115:1855–62 doi:10.1097/01.mlg.0000177032.98386.20 pmid:16222209
    CrossRefPubMed
  11. 11.↵
    1. Chen A,
    2. Francis M,
    3. Ni L, et al
    . Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet 1995;58:365–70 doi:10.1002/ajmg.1320580413 pmid:8533848
    CrossRefPubMedWeb of Science
  12. 12.↵
    1. Fraser FC,
    2. Sproule JR,
    3. Halal F
    . Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet 1980;7:341–49 doi:10.1002/ajmg.1320070316 pmid:7468659
    CrossRefPubMedWeb of Science
  13. 13.↵
    1. Cohen JF,
    2. Korevaar DA,
    3. Altman DG, et al
    . STARD 2015 guidelines for reporting diagnostic accuracy studies: explanation and elaboration. BMJ Open 2016;6:e012799 doi:10.1136/bmjopen-2016-012799 pmid:28137831
    Abstract/FREE Full Text
  14. 14.↵
    1. Abdelhak S,
    2. Kalatzis V,
    3. Heilig R, et al
    . A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 1997;15:157–64 doi:10.1038/ng0297-157 pmid:9020840
    CrossRefPubMedWeb of Science
  15. 15.↵
    1. Cook PJ,
    2. Ju BG,
    3. Telese F, et al
    . Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions. Nature 2009;458:591–96 doi:10.1038/nature07849 pmid:19234442
    CrossRefPubMedWeb of Science
  16. 16.↵
    1. Sanggaard KM,
    2. Rendtorff ND,
    3. Kjaer KW, et al
    . Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet 2007;15:1121–31 doi:10.1038/sj.ejhg.5201900 pmid:17637804
    CrossRefPubMedWeb of Science
  17. 17.↵
    1. Kemperman MH,
    2. Koch SM,
    3. Joosten FB, et al
    . Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome. Arch Otolaryngol Head Neck Surg 2002;128:1033–38 doi:10.1001/archotol.128.9.1033 pmid:12220207
    CrossRefPubMed
  18. 18.↵
    1. Ceruti S,
    2. Stinckens C,
    3. Cremers CW, et al
    . Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings. Otol Neurotol 2002;23:200–07 doi:10.1097/00129492-200203000-00016 pmid:11875350
    CrossRefPubMed
  19. 19.↵
    1. Ostri B,
    2. Johnsen T,
    3. Bergmann I
    . Temporal bone findings in a family with branchio-oto-renal syndrome (BOR). Clin Otolaryngol Allied Sci 1991;16:163–67 pmid:2070534
    CrossRefPubMed
PreviousNext
Back to top

In this issue

American Journal of Neuroradiology: 39 (12)
American Journal of Neuroradiology
Vol. 39, Issue 12
1 Dec 2018
  • Table of Contents
  • Index by author
  • Complete Issue (PDF)
Advertisement
Print
Download PDF
Email Article

Thank you for your interest in spreading the word on American Journal of Neuroradiology.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome
(Your Name) has sent you a message from American Journal of Neuroradiology
(Your Name) thought you would like to see the American Journal of Neuroradiology web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Cite this article
A. Hsu, N. Desai, M.J. Paldino
The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome
American Journal of Neuroradiology Dec 2018, 39 (12) 2345-2349; DOI: 10.3174/ajnr.A5856

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
0 Responses
Respond to this article
Share
Bookmark this article
The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome
A. Hsu, N. Desai, M.J. Paldino
American Journal of Neuroradiology Dec 2018, 39 (12) 2345-2349; DOI: 10.3174/ajnr.A5856
del.icio.us logo Twitter logo Facebook logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One
Purchase

Jump to section

  • Article
    • Abstract
    • ABBREVIATION:
    • Materials and Methods
    • Results
    • Discussion
    • Conclusions
    • References
  • Figures & Data
  • Info & Metrics
  • Responses
  • References
  • PDF

Related Articles

  • No related articles found.
  • PubMed
  • Google Scholar

Cited By...

  • Subtle Malformation of the Cochlear Apex and Genetic Abnormalities: Beyond the "Thorny" Cochlea
  • The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns
  • Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation
  • Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in {alpha}-Dystroglycan-Related Muscular Disorders
  • Crossref
  • Google Scholar

This article has not yet been cited by articles in journals that are participating in Crossref Cited-by Linking.

More in this TOC Section

  • Revisiting CT Signs of Unilateral Vocal Fold Paralysis: A Single, Blinded Study
  • COVID-19–Associated Bifacial Weakness with Paresthesia Subtype of Guillain-Barré Syndrome
  • MRI Findings of Immune Checkpoint Inhibitor–Induced Hypophysitis: Possible Association with Fibrosis
Show more Head & Neck

Similar Articles

Advertisement

Indexed Content

  • Current Issue
  • Accepted Manuscripts
  • Article Preview
  • Past Issues
  • Editorials
  • Editor's Choice
  • Fellows' Journal Club
  • Letters to the Editor
  • Video Articles

Cases

  • Case Collection
  • Archive - Case of the Week
  • Archive - Case of the Month
  • Archive - Classic Case

More from AJNR

  • Trainee Corner
  • Imaging Protocols
  • MRI Safety Corner
  • Book Reviews

Multimedia

  • AJNR Podcasts
  • AJNR Scantastics

Resources

  • Turnaround Time
  • Submit a Manuscript
  • Submit a Video Article
  • Submit an eLetter to the Editor/Response
  • Manuscript Submission Guidelines
  • Statistical Tips
  • Fast Publishing of Accepted Manuscripts
  • Graphical Abstract Preparation
  • Imaging Protocol Submission
  • Evidence-Based Medicine Level Guide
  • Publishing Checklists
  • Author Policies
  • Become a Reviewer/Academy of Reviewers
  • News and Updates

About Us

  • About AJNR
  • Editorial Board
  • Editorial Board Alumni
  • Alerts
  • Permissions
  • Not an AJNR Subscriber? Join Now
  • Advertise with Us
  • Librarian Resources
  • Feedback
  • Terms and Conditions
  • AJNR Editorial Board Alumni

American Society of Neuroradiology

  • Not an ASNR Member? Join Now

© 2025 by the American Society of Neuroradiology All rights, including for text and data mining, AI training, and similar technologies, are reserved.
Print ISSN: 0195-6108 Online ISSN: 1936-959X

Powered by HighWire