@article {Traylor:2019:2637-8329:358,
title = "Inner Ear Anomalies in Congenital Hearing Loss: Imaging, Genetics, and Associated Syndromes",
journal = "Neurographics",
parent_itemid = "infobike://asnr/ng",
publishercode ="asnr",
year = "2019",
volume = "9",
number = "6",
publication date ="2019-12-01T00:00:00",
pages = "358-372",
itemtype = "ARTICLE",
issn = "2637-8329",
eissn = "2637-8329",
url = "https://asnr.publisher.ingentaconnect.com/content/asnr/ng/2019/00000009/00000006/art00002",
doi = "doi:10.3174/ng.1900001",
keyword = "GJB2 = gap junction beta 2, TBX1 = gene that encodes the T-box protein 1, BOR = branchio-oto-renal, CHD7 = chromodomain helicase DNA binding protein 7, HOXA1 = Homeobox A1, ARTS = endoplasmic reticulum aminopeptidase, CHARGE = colobomas, heart disease, choanal atresia, mental retardation, genital hypoplasia, and ear anomalies, CN = cranial nerve, IP = incomplete partition (types I, II, III), PAX2 = belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development, SLC6A4 = gene that encodes for the protein, pendrin, which is an anion exchange protein, CA = cochlear aplasia, FGFR = fibroblast growth factor receptor, SIX = SIX homeobox are transcription factors in the SIX gene family, VA = vestibular aqueduct, POU3F4 = POU Class 3 Homeobox 4, FGF = fibroblast growth factor, DDX11 = DEAD/H-Box Helicase 11, LAMM = labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome, KCNJ10 = gene which encodes for the ATP-sensitive inward rectifier potassium channel 10, EYA1 = Eyes absent homolog 1, LA = labyrinthine aplasia, CH = cochlear hypoplasia, FOXI1 = Forkhead Box I1, EAC = external auditory canal, DFN3 = X-linked deafness type 3, EVA = enlarged vestibular aqueduct, 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, IAC = internal auditory canal, DFN = X-linked deafness",
author = "Traylor, K.S. and Dodson, S. and Kralik, S.F. and Ho, C. and Radhakrishnan, R.",
abstract = "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.",
}