Waardenburg syndrome: MRI features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Waardenburg syndrome: MRI features. Agenesis or hypoplasia of the semi-circular canals, Enlargement of the vestibule. Fully referenced neurology checklist.
Auditory MRI features (SOX10 mutation)
- Agenesis or hypoplasia of the semi-circular canals
- Enlargement of the vestibule
- Abnormal size and shape of the cochlea
- Absent cochlear nerve
Other MRI features (SOX10 mutation)
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References
- Elmaleh-Bergès M, Baumann C, Noël-Pétroff N, et al. Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations. Am J Neuroradiol 2013; 34:1257-1263.
- Kontorinis G, Goetz F, Lanfermann H, Luytenski S, Giesemann AM. Inner ear anatomy in Waardenburg syndrome: radiological assessment and comparison with normative data. Int J Pediatr Otorhinolaryngol 2014; 78:1320-1326.
