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Free Content Inner Ear Anomalies in Congenital Hearing Loss: Imaging, Genetics, and Associated Syndromes

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Hearing loss is a common cause of childhood disability in the United States, often substantially impacting speech and language development. Unlike adults, sensorineural hearing loss in children frequently is associated with anatomic abnormalities of the inner ear, the cochleovestibular nerve, or the auditory processing centers of the brain, which can be identified with imaging. There are >300 syndromic causes of hearing impairment, and this review discusses a few of the common syndromes that have characteristic inner ear anomalies.

Learning Objectives: 1) To provide knowledge on the genetic basis of common congenital ear anomalies; 2) to identify temporal bone anomalies on imaging studies, which may indicate a particular syndrome or genetic abnormality; and 3) to increase radiologist awareness that congenital ear anomalies, in the setting of hearing loss, may not exist as isolated imaging findings and often have associations with abnormalities in other organ systems throughout the body.
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Keywords: ARTS = endoplasmic reticulum aminopeptidase; BOR = branchio-oto-renal; CA = cochlear aplasia; CH = cochlear hypoplasia; CHARGE = colobomas, heart disease, choanal atresia, mental retardation, genital hypoplasia, and ear anomalies; CHD7 = chromodomain helicase DNA binding protein 7; CN = cranial nerve; DDX11 = DEAD/H-Box Helicase 11; DFN = X-linked deafness; DFN3 = X-linked deafness type 3; EAC = external auditory canal; EVA = enlarged vestibular aqueduct; EYA1 = Eyes absent homolog 1; FGF = fibroblast growth factor; FGFR = fibroblast growth factor receptor; FOXI1 = Forkhead Box I1; GJB2 = gap junction beta 2; HOXA1 = Homeobox A1; IAC = internal auditory canal; IP = incomplete partition (types I, II, III); KCNJ10 = gene which encodes for the ATP-sensitive inward rectifier potassium channel 10; LA = labyrinthine aplasia; LAMM = labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome; PAX2 = belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development; POU3F4 = POU Class 3 Homeobox 4; SIX = SIX homeobox are transcription factors in the SIX gene family; SLC6A4 = gene that encodes for the protein, pendrin, which is an anion exchange protein; SOX = (sex determining region Y)-related HMG-box 10. Belongs to a family of genes that play a critical role in the formation of tissues and organs during embryonic development; TBX1 = gene that encodes the T-box protein 1; VA = vestibular aqueduct

Document Type: Research Article

Publication date: December 1, 2019

More about this publication?
  • Neurographics is the peer-reviewed, bimonthly educational journal of the American Society of Neuroradiology. The journal comprises articles selected from material presented at the ASNR Annual Meeting. Neurographics also publishes other high-quality submissions that are primarily educational and have a high emphasis on a pictorial approach. Neurographics offers CME credit for reading review articles and completing quiz-based self-assessment activities.

    Visit to view all available CME courses.

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