Waardenburg syndrome: MRI features
Evidence-based neurology checklist on waardenburg syndrome: mri features: 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)
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)
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.
