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Abnormal inner ear morphology

MedGen UID:
868967
•Concept ID:
C4023381
•
Anatomical Abnormality
Synonym: Morphological abnormality of the inner ear
 
HPO: HP:0011390

Definition

A structural anomaly of the internal part of the ear. [from HPO]

Conditions with this feature

Autosomal dominant nonsyndromic hearing loss 44
MedGen UID:
334525
•Concept ID:
C1843895
•
Disease or Syndrome
Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.
See: Condition Record
Hearing loss, autosomal dominant 77
MedGen UID:
1709284
•Concept ID:
C5394499
•
Disease or Syndrome
Autosomal dominant deafness-77 (DFNA77) is characterized by progressive hearing loss affecting high frequencies beginning in the second to third decades of life and affecting all frequencies by the fourth or fifth decades (Li et al., 2019).
See: Condition Record
Hearing loss, autosomal dominant 86
MedGen UID:
1840976
•Concept ID:
C5830340
•
Disease or Syndrome
Autosomal dominant deafness-86 (DFNA86) is characterized by late-onset progressive hearing loss through p53 (TP53; 191170)-mediated hair cell apoptosis (Zhang et al., 2020).
See: Condition Record
Autosomal dominant nonsyndromic hearing loss 44
Hearing loss, autosomal dominant 77
Hearing loss, autosomal dominant 86

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
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
Pediatric cochlear implantation: candidacy evaluation, medical and surgical considerations, and expanding criteria.
Heman-Ackah SE, Roland JT Jr, Haynes DS, Waltzman SB
Otolaryngol Clin North Am 2012 Feb;45(1):41-67. doi: 10.1016/j.otc.2011.08.016. PMID: 22115681

Recent clinical studies

Etiology

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies.
Ocak E, Duman D, Tekin M
Balkan Med J 2019 Jul 11;36(4):206-211. Epub 2019 May 27 doi: 10.4274/balkanmedj.galenos.2019.2019.4.66. PMID: 31131597Free PMC Article
Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
Meniere's disease.
Nakashima T, Pyykkö I, Arroll MA, Casselbrant ML, Foster CA, Manzoor NF, Megerian CA, Naganawa S, Young YH
Nat Rev Dis Primers 2016 May 12;2:16028. doi: 10.1038/nrdp.2016.28. PMID: 27170253
Stapedectomy in children.
House JW, Sheehy JL, Antunez JC
Laryngoscope 1980 Nov;90(11 Pt 1):1804-9. doi: 10.1288/00005537-198011000-00007. PMID: 7432061
Microtia.
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Diagnosis

Hearing loss and renal syndromes.
Phelan PJ, Rheault MN
Pediatr Nephrol 2018 Oct;33(10):1671-1683. Epub 2017 Nov 12 doi: 10.1007/s00467-017-3835-9. PMID: 29130116
Meniere's disease.
Nakashima T, Pyykkö I, Arroll MA, Casselbrant ML, Foster CA, Manzoor NF, Megerian CA, Naganawa S, Young YH
Nat Rev Dis Primers 2016 May 12;2:16028. doi: 10.1038/nrdp.2016.28. PMID: 27170253
Genetic hearing impairment.
Ječmenica J, Bajec-Opančina A, Ječmenica D
Childs Nerv Syst 2015 Apr;31(4):515-9. Epub 2015 Feb 17 doi: 10.1007/s00381-015-2628-3. PMID: 25686889
Perilymphatic fistula.
Maitland CG
Curr Neurol Neurosci Rep 2001 Sep;1(5):486-91. doi: 10.1007/s11910-001-0111-x. PMID: 11898560
Temporal bone imaging.
Casselman JW
Neuroimaging Clin N Am 1996 May;6(2):265-89. PMID: 8726907

Therapy

Ear malformations: what do radiologists need to know?
Metwally MI, Alayouty NA, Basha MAA
Clin Imaging 2020 Oct;66:42-53. Epub 2020 Apr 20 doi: 10.1016/j.clinimag.2020.04.022. PMID: 32450482
Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms.
Liberman MC, Kujawa SG
Hear Res 2017 Jun;349:138-147. Epub 2017 Jan 10 doi: 10.1016/j.heares.2017.01.003. PMID: 28087419Free PMC Article
Meniere's disease.
Nakashima T, Pyykkö I, Arroll MA, Casselbrant ML, Foster CA, Manzoor NF, Megerian CA, Naganawa S, Young YH
Nat Rev Dis Primers 2016 May 12;2:16028. doi: 10.1038/nrdp.2016.28. PMID: 27170253
Osteogenesis imperfecta.
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585
Microtia.
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Prognosis

Otopathologic Abnormalities in CHARGE Syndrome.
da Costa Monsanto R, Knoll RM, de Oliveira Penido N, Song G, Santos F, Paparella MM, Cureoglu S
Otolaryngol Head Neck Surg 2022 Feb;166(2):363-372. Epub 2021 Apr 20 doi: 10.1177/01945998211008911. PMID: 33874787
Cochlear Implantation in Inner Ear Malformations: Systematic Review of Speech Perception Outcomes and Intraoperative Findings.
Farhood Z, Nguyen SA, Miller SC, Holcomb MA, Meyer TA, Rizk HG
Otolaryngol Head Neck Surg 2017 May;156(5):783-793. Epub 2017 Apr 4 doi: 10.1177/0194599817696502. PMID: 28374626
Some Remarks on Imaging of the Inner Ear: Options and Limitations.
Giesemann A, Hofmann E
Clin Neuroradiol 2015 Oct;25 Suppl 2:197-203. Epub 2015 Jul 8 doi: 10.1007/s00062-015-0422-y. PMID: 26153464
Update on Usher syndrome.
Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M
Curr Opin Neurol 2009 Feb;22(1):19-27. doi: 10.1097/wco.0b013e3283218807. PMID: 19165952
Microtia.
Tanzer RC
Clin Plast Surg 1978 Jul;5(3):317-36. PMID: 359217

Clinical prediction guides

KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans.
Kalinousky AJ, Luperchio TR, Schrode KM, Harris JR, Zhang L, DeLeon VB, Fahrner JA, Lauer AM, Bjornsson HT
Genes (Basel) 2023 Dec 28;15(1) doi: 10.3390/genes15010048. PMID: 38254937Free PMC Article
MRI can help differentiate Ménière's disease from other menieriform diseases.
Li J, Li L, Jin X, Hu N, Kong X, Wang L, Li X, Dou W, Sun L, Li C, Gong R
Sci Rep 2023 Dec 6;13(1):21527. doi: 10.1038/s41598-023-49066-5. PMID: 38057393Free PMC Article
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
Osteogenesis imperfecta.
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585

Recent systematic reviews

Cochlear Implantation in Pediatric Patients With Enlarged Vestibular Aqueduct: A Systematic Review.
Benchetrit L, Jabbour N, Appachi S, Liu YC, Cohen MS, Anne S
Laryngoscope 2022 Jul;132(7):1459-1472. Epub 2021 Jul 7 doi: 10.1002/lary.29742. PMID: 34233033
Systematic review of cochlear implantation in CHARGE syndrome.
Amin N, Sethukumar P, Pai I, Rajput K, Nash R
Cochlear Implants Int 2019 Sep;20(5):266-280. Epub 2019 Jul 7 doi: 10.1080/14670100.2019.1634857. PMID: 31282293
Cochlear Implantation in Inner Ear Malformations: Systematic Review of Speech Perception Outcomes and Intraoperative Findings.
Farhood Z, Nguyen SA, Miller SC, Holcomb MA, Meyer TA, Rizk HG
Otolaryngol Head Neck Surg 2017 May;156(5):783-793. Epub 2017 Apr 4 doi: 10.1177/0194599817696502. PMID: 28374626
Progressive Hearing Loss and Head Trauma in Enlarged Vestibular Aqueduct: A Systematic Review and Meta-analysis.
Alemi AS, Chan DK
Otolaryngol Head Neck Surg 2015 Oct;153(4):512-7. Epub 2015 Jul 23 doi: 10.1177/0194599815596343. PMID: 26204902
Primary inner ear schwannomas: a case series and systematic review of the literature.
Van Abel KM, Carlson ML, Link MJ, Neff BA, Beatty CW, Lohse CM, Eckel LJ, Lane JI, Driscoll CL
Laryngoscope 2013 Aug;123(8):1957-66. Epub 2013 Jan 18 doi: 10.1002/lary.23928. PMID: 23335152

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