ArticleAJNR. American journal of neuroradiology2022
Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation.
Article in AJNR. American journal of neuroradiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Clinical and Genetic Features inDiagnostics (Basel, Switzerland) · 2026Article
- Branchio-oto-renal syndrome: a narrative review.Childhood kidney diseases · 2026Review
- Pediatric temporal bone and inner ear imaging: an overview of preoperative and postoperative consideration for cochlear implantation.Pediatric radiology · 2026Review
- The cochlear basal turn as a very preserved region in cochlear hypoplasias: radiological and embryological considerations from a cohort of 125 patients.Neuroradiology · 2025Article
- TheFrontiers in medicine · 2025Review
- The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.Neuroradiology · 2023Review
- Subtle Malformation of the Cochlear Apex and Genetic Abnormalities: Beyond the "Thorny" Cochlea.AJNR. American journal of neuroradiology · 2023Article
- The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns.AJNR. American journal of neuroradiology · 2022Article
Corrections and comments
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Authors and funding
7 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeTemporal bone imaging plays an important role in the work-up of branchio-oto-renal syndrome. Previous reports have suggested that the unwound or offset cochlea is a highly characteristic marker for branchio-oto-renal syndrome. Our goals were to examine the prevalence of this finding in a branchio-oto-renal syndrome cohort and analyze genetic-phenotypic associations not previously established. MATERIALS AND
methodsThis multicenter retrospective study included 38 ears in 19 unrelated individuals with clinically diagnosed branchio-oto-renal syndrome and confirmed mutations in the
resultsThere was excellent interrater agreement for all 13 phenotypic categories (κ ≥ 0.80). Of these, 9 categories showed statistically significant differences between patients with
conclusionsAn offset cochlea is associated with the
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Registered trials
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