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Abstract
SUMMARY: With the routine use of high-resolution heavily T2-weighted sequences to evaluate patients with hearing deficits, new, subtle phenotypes of cochlear malformations are being discovered and an increasing number of genotype-phenotype correlations are being found through a reverse phenotype approach, which can help guide geneticists. In this brief report, we present subtle malformations of the apical turn of the cochlea related to 3 genetic mutations, emphasizing the importance of a careful assessment of the cochlear apex.
ABBREVIATIONS:
- BOR
- branchio-oto-renal syndrome
- DEGCAGS
- DEvelopmental delay with Gastrointestinal, CArdiovascular, Genitourinary, and Skeletal abnormalities
- IAC
- internal auditory canal
- SNHL
- sensorineural hearing loss
- © 2023 by American Journal of Neuroradiology