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Temporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution
Maria-de-la-Luz Arenas-Sordo1, Garly-Daniel Gonzalez-Rosado2, Maria-Isabel Barradas-Hernandez3
1Servicio de Medicina Genómica, Instituto Nacional de Rehabilitacion 'Luis Guillermo Ibarra Ibarra', Mexico City 14389, Mexico.
European Journal of Radiology
|November 25, 2025
Summary
High-resolution CT in oculo-auriculo-vertebral (OAV) spectrum reveals frequent craniofacial and vertebral anomalies correlating with clinical severity. This aids in planning surgeries and systemic screenings for better patient care.
Area of Science:
- Medical Imaging
- Genetics and Genomics
- Developmental Biology
Background:
- Oculo-auriculo-vertebral (OAV) spectrum is a complex congenital disorder.
- Characterizing craniofacial, temporal bone, vertebral, and systemic anomalies is crucial for management.
- High-resolution computed tomography (HRCT) offers detailed anatomical insights.
Purpose of the Study:
- To characterize craniofacial, temporal bone, vertebral, and systemic anomalies in OAV spectrum using HRCT.
- To correlate these anomalies with clinical severity using the Tasse Objective Scoring System.
Main Methods:
- Retrospective study of 223 clinically diagnosed OAV patients (2015-2024).
- HRCT analysis of external auditory canal, ossicles, and facial nerve.
- Evaluation of inner ear, vertebral, renal, and cardiac anomalies.
- Statistical analysis including chi-square, Fisher, and Spearman correlation tests.
Main Results:
- Frequent external auditory canal stenosis/atresia, ossicular abnormalities, and aberrant facial nerve course increased with Tasse severity.
- Inner-ear malformations and vestibular/vestibulocochlear nerve anomalies were identified in subsets.
- Vertebral anomalies (29.1%) and renal anomalies (16.6%) showed a significant grade-wise increase.
- Cardiac anomalies occurred in 14.8% without significant between-grade differences.
Conclusions:
- HRCT phenotyping combined with Tasse severity stratification provides actionable data for surgical planning (e.g., canaloplasty, ossiculoplasty).
- Prioritizes systemic surveillance, particularly for spine and renal abnormalities in OAV spectrum.
- This integrated approach supports multidisciplinary care and future research frameworks.
Keywords:
Cochlear hypoplasiaComputed tomographyCraniofacial anomaliesExternal auditory canal atresiaFacial nerve abnormalitiesGoldenhar syndromeHearing lossIncomplete cochlear partitionMicrotiaOculo-auriculo-vertebral spectrumOssicular chain anomaliesOtologic surgeryRenal malformationsVertebral anomaliesVestibulocochlear nerve agenesisMore Related Videos
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