PT  - JOURNAL ARTICLE
AU  - D’Arco, F.
AU  - Biswas, A.
AU  - Clement, E.
AU  - Rajput, K.
AU  - Juliano, A.F.
TI  - Subtle Malformation of the Cochlear Apex and Genetic Abnormalities: Beyond the “Thorny” Cochlea
AID  - 10.3174/ajnr.A7746
DP  - 2022 Dec 22
TA  - American Journal of Neuroradiology
4099  - http://www.ajnr.org/content/early/2022/12/21/ajnr.A7746.short
4100  - http://www.ajnr.org/content/early/2022/12/21/ajnr.A7746.full
AB  - 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.BORbranchio-oto-renal syndromeDEGCAGSDEvelopmental delay with Gastrointestinal, CArdiovascular, Genitourinary, and Skeletal abnormalitiesIACinternal auditory canalSNHLsensorineural hearing loss