RT Journal Article
SR Electronic
T1 Subtle Malformation of the Cochlear Apex and Genetic Abnormalities: Beyond the “Thorny” Cochlea
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 79
OP 81
DO 10.3174/ajnr.A7746
VO 44
IS 1
A1 D’Arco, F.
A1 Biswas, A.
A1 Clement, E.
A1 Rajput, K.
A1 Juliano, A.F.
YR 2023
UL http://www.ajnr.org/content/44/1/79.abstract
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