Radiological malformations of the ear in pendred syndrome
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Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss
2022, European Journal of Medical GeneticsEnlarged Vestibular Aqueduct
2021, Cummings Pediatric OtolaryngologyTemporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide
2020, European Journal of RadiologyCitation Excerpt :Vestibular widening or enlargement is another almost constant feature [59]. Cochlear malformations can be present as well, including incompletely partitioned cochleae, with deficient modiolus and absence of the interscalar septum between the upper and middle cochlear turns (incomplete partition type II) (Fig. 8) [3,57,60] Down syndrome (DS) is a multisystem genetic disorder, sporadic in most cases, caused by trisomy of chromosome 21, with an incidence of 1 in 1000 live births [61].
Imaging of Pediatric Hearing Loss
2019, Neuroimaging Clinics of North AmericaImaging Findings in Syndromes with Temporal Bone Abnormalities
2019, Neuroimaging Clinics of North America
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