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Inner ear malformation

MedGen UID:
906478
•Concept ID:
C4231418
•
Finding

Professional guidelines

PubMed

Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.
Chanclud J, Valence S, Perre SV, Guilbaud L, Moutard ML, Jouannic JM, Ducou Le Pointe H, Blondiaux E, Garel C
Pediatr Radiol 2023 Mar;53(3):461-469. Epub 2022 Oct 24 doi: 10.1007/s00247-022-05531-3. PMID: 36274068
A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
Li S, Qin M, Mao S, Mei L, Cai X, Feng Y, He C, Song J
BMC Med Genomics 2022 Nov 3;15(1):230. doi: 10.1186/s12920-022-01379-6. PMID: 36329483Free PMC Article
Analysis between phenotypes and genotypes of inner ear malformation.
Wang S, Ding W, Chen C, Xu B, Liu X, Bian P, Guo Y
Acta Otolaryngol 2019 Mar;139(3):223-232. Epub 2019 Feb 14 doi: 10.1080/00016489.2018.1554262. PMID: 30762457

Recent clinical studies

Etiology

Late-onset, progressive sensorineural hearing loss in the paediatric population: a systematic review.
Corazzi V, Fordington S, Brown TH, Donnelly N, Bewick J, Ehsani D, Pelucchi S, Bianchini C, Ciorba A, Borsetto D
Eur Arch Otorhinolaryngol 2024 Jul;281(7):3397-3421. Epub 2024 Feb 27 doi: 10.1007/s00405-024-08527-x. PMID: 38411671
Long-term audiologic outcomes and potential outcome predictors of cochlear implantation in cochlear aplasia with dilated vestibule: A case series.
Kim BJ, Jeon H, Kim Y, Lee SY, Han JH, Yi N, Chung JW, Oh SH, Choi BY
Clin Otolaryngol 2022 Sep;47(5):599-605. Epub 2022 Jun 14 doi: 10.1111/coa.13952. PMID: 35653220
Auditory brainstem implant program development.
Schwartz MS, Wilkinson EP
Laryngoscope 2017 Aug;127(8):1909-1915. Epub 2016 Sep 26 doi: 10.1002/lary.26312. PMID: 27716925
CSF Gusher in Cochlear Implant Surgery-does it affect surgical outcomes?
Vashist S, Singh S
Eur Ann Otorhinolaryngol Head Neck Dis 2016 Jun;133 Suppl 1:S21-4. Epub 2016 May 30 doi: 10.1016/j.anorl.2016.04.010. PMID: 27256962
Unruptured translabyrinthine meningocele without CSF otorrhea.
Kong WK, Lee CH, Eunhye Y, Shin SH
Int J Pediatr Otorhinolaryngol 2014 Mar;78(3):566-9. Epub 2014 Jan 10 doi: 10.1016/j.ijporl.2013.12.034. PMID: 24480122

Diagnosis

Imaging Guide to Inner Ear Malformations: An Illustrative Review.
Yu FF, Feltrin FS, Bathla G, Raj K, Agarwal A, Lee WC, Booth T, Singh A
Curr Probl Diagn Radiol 2023 Nov-Dec;52(6):576-585. Epub 2023 Jul 4 doi: 10.1067/j.cpradiol.2023.06.010. PMID: 37500297
Analysis between phenotypes and genotypes of inner ear malformation.
Wang S, Ding W, Chen C, Xu B, Liu X, Bian P, Guo Y
Acta Otolaryngol 2019 Mar;139(3):223-232. Epub 2019 Feb 14 doi: 10.1080/00016489.2018.1554262. PMID: 30762457
Congenital Malformations of the Inner Ear: Case Series and Review of the Literature.
Piromchai P, Kasemsiri P, Thanawirattananit P, Yimtae K
J Med Assoc Thai 2015 Aug;98 Suppl 7:S217-24. PMID: 26742393
Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement.
Lugli L, Just W, Genovese E, Palma S, Ferrari F, Percesepe A
Clin Dysmorphol 2015 Jan;24(1):17-20. doi: 10.1097/MCD.0000000000000061. PMID: 25325184
Unruptured translabyrinthine meningocele without CSF otorrhea.
Kong WK, Lee CH, Eunhye Y, Shin SH
Int J Pediatr Otorhinolaryngol 2014 Mar;78(3):566-9. Epub 2014 Jan 10 doi: 10.1016/j.ijporl.2013.12.034. PMID: 24480122

Therapy

Cerebrospinal Fluid Gusher in Cochlear Implantation and Its Association with Inner-Ear Malformations.
Dalgic A, Atsal G, Ceylan ME, Aydın E, Adıbelli ZH, Edizer DT, Olgun L
J Int Adv Otol 2022 Nov;18(6):478-481. doi: 10.5152/iao.2022.21441. PMID: 36349668Free PMC Article
Cochlear Implantation in Inner Ear Malformations: Considerations Related to Surgical Complications and Communication Skills.
Karamert R, Tutar H, Altinyay Ş, Düzlü M, Yildiz M, Akdulum İ, Uğur MB, Çolak M, Cebeci S, Şahin MM, Orçan E, Bayazit YA
ORL J Otorhinolaryngol Relat Spec 2022;84(3):211-218. Epub 2021 Sep 9 doi: 10.1159/000517562. PMID: 34500448
Postoperative objective detecting techniques for cochlear implant children with inner ear malformation.
Qiao XF, Li X, Zhang QW, Li TL, Wang D
Int J Pediatr Otorhinolaryngol 2017 Nov;102:1-6. Epub 2017 Aug 25 doi: 10.1016/j.ijporl.2017.08.026. PMID: 29106852
X-linked Malformation and Cochlear Implantation.
Smeds H, Wales J, Asp F, Löfkvist U, Falahat B, Anderlid BM, Anmyr L, Karltorp E
Otol Neurotol 2017 Jan;38(1):38-46. doi: 10.1097/MAO.0000000000001253. PMID: 27779564
Congenital malformations of the ear and cochlear implantation in children: review and temporal bone report of common cavity.
Graham JM, Phelps PD, Michaels L
J Laryngol Otol Suppl 2000;25:1-14. doi: 10.1258/0022215001904842. PMID: 10824232

Prognosis

Non-Syndromic Sensorineural Hearing Loss in Children.
Robson CD, Lewis M, D'Arco F
Neuroimaging Clin N Am 2023 Nov;33(4):531-542. Epub 2023 Jul 11 doi: 10.1016/j.nic.2023.05.005. PMID: 37741656
Long-term audiologic outcomes and potential outcome predictors of cochlear implantation in cochlear aplasia with dilated vestibule: A case series.
Kim BJ, Jeon H, Kim Y, Lee SY, Han JH, Yi N, Chung JW, Oh SH, Choi BY
Clin Otolaryngol 2022 Sep;47(5):599-605. Epub 2022 Jun 14 doi: 10.1111/coa.13952. PMID: 35653220
A novel cochlear measurement that predicts inner-ear malformation.
Khurayzi T, Almuhawas F, Alsanosi A, Abdelsamad Y, Doyle Ú, Dhanasingh A
Sci Rep 2021 Apr 1;11(1):7339. doi: 10.1038/s41598-021-86741-x. PMID: 33795738Free PMC Article
The Hearing Outcomes of Cochlear Implantation in Waardenburg Syndrome.
Koyama H, Kashio A, Sakata A, Tsutsumiuchi K, Matsumoto Y, Karino S, Kakigi A, Iwasaki S, Yamasoba T
Biomed Res Int 2016;2016:2854736. Epub 2016 Jun 8 doi: 10.1155/2016/2854736. PMID: 27376080Free PMC Article
CSF Gusher in Cochlear Implant Surgery-does it affect surgical outcomes?
Vashist S, Singh S
Eur Ann Otorhinolaryngol Head Neck Dis 2016 Jun;133 Suppl 1:S21-4. Epub 2016 May 30 doi: 10.1016/j.anorl.2016.04.010. PMID: 27256962

Clinical prediction guides

A clinical epidemiological study on congenital ear malformation (CEM).
Zhang M, Lin J, Zhang J, Han Z, Liu C, Zou Y
Acta Otolaryngol 2023 Nov;143(sup1):S17-S24. Epub 2024 Feb 13 doi: 10.1080/00016489.2023.2276348. PMID: 38071650
Discrepancies in the caloric testing and video Head Impulse Test results in a case with bilateral lateral semicircular canal malformations.
Fujiwara K, Morita S, Fukuda A, Hoshino K, Nakamaru Y, Homma A
Auris Nasus Larynx 2023 Jun;50(3):463-467. Epub 2022 Apr 22 doi: 10.1016/j.anl.2022.04.008. PMID: 35469681
Long-term audiologic outcomes and potential outcome predictors of cochlear implantation in cochlear aplasia with dilated vestibule: A case series.
Kim BJ, Jeon H, Kim Y, Lee SY, Han JH, Yi N, Chung JW, Oh SH, Choi BY
Clin Otolaryngol 2022 Sep;47(5):599-605. Epub 2022 Jun 14 doi: 10.1111/coa.13952. PMID: 35653220
Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features.
Forli F, Lazzerini F, Auletta G, Bruschini L, Berrettini S
Eur Arch Otorhinolaryngol 2021 Jul;278(7):2305-2312. Epub 2020 Sep 10 doi: 10.1007/s00405-020-06333-9. PMID: 32910226Free PMC Article
CSF Gusher in Cochlear Implant Surgery-does it affect surgical outcomes?
Vashist S, Singh S
Eur Ann Otorhinolaryngol Head Neck Dis 2016 Jun;133 Suppl 1:S21-4. Epub 2016 May 30 doi: 10.1016/j.anorl.2016.04.010. PMID: 27256962

Recent systematic reviews

Current status of pediatric auditory brainstem implantation in inner ear malformations; consensus statement of the Third International Pediatric ABI Meeting.
Sennaroglu L, Lenarz T, Roland JT, Lee DJ, Colletti L, Behr R, Jiang D, Saeed SR, Casselman J, Manrique M, Diamante V, Freeman SRM, Lloyd SKW, Zarowski A, Offeciers E, Kameswaran M, de la Torre Diamante DA, Bilginer B, Thomas N, Bento R, Sennaroglu G, Yucel E, Bajin MD, Cole C, Martinez A, Loggins J, Eisenberg LS, Wilkinson EP, Bakey CA, Carter CL, Herrmann BS, Waltzman S, Shapiro W, Svirsky M, Pallares N, Diamante G, Heller F, Palacios M, Diamante LL, Chang W, Tong M, Wu H, Batuk MO, Yarali M, Cinar BC, Ozkan HB, Aslan F, Hallin K, Rask-Andersen H, Huarte A, Prieto-Matos C, Topsakal V, Hofkens-Van den Brandt A, Rompaey VV, Boudewyns A, van de Heyning P, Gaertner L, Shapira Y, Henkin Y, Battelino S, Orzan E, Muzzi E, Marchi R, Free R, Frijns JHM, Voelker C, Winter M, Schrader D, Ganguly DH, Egra-Dagan D, Diab K, Dayxes N, Nanan A, Koji R, Karaosmanoğlu A, Bulut EG, Verbist B, Azadpour M, Mandala M, Goffi MV, Polak M, Lee KYS, Wilson K, Friedmann DR, Rajeswaran R, Monsanto R, Cureoglu S, Driver S, Bošnjak R, Dundar G, Eroglu E
Cochlear Implants Int 2024 Jul;25(4):316-333. Epub 2024 Nov 28 doi: 10.1080/14670100.2024.2413273. PMID: 39607757
Late-onset, progressive sensorineural hearing loss in the paediatric population: a systematic review.
Corazzi V, Fordington S, Brown TH, Donnelly N, Bewick J, Ehsani D, Pelucchi S, Bianchini C, Ciorba A, Borsetto D
Eur Arch Otorhinolaryngol 2024 Jul;281(7):3397-3421. Epub 2024 Feb 27 doi: 10.1007/s00405-024-08527-x. PMID: 38411671

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