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Abnormal ear physiology

MedGen UID:
1631982
•Concept ID:
C4703492
•
Disease or Syndrome
HPO: HP:0031704

Definition

Any functional anomaly of the ear. [from HPO]

Professional guidelines

PubMed

Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.
Collins C, Sharpe E, Silber A, Kulke S, Hsieh EWY
J Clin Immunol 2021 Jul;41(5):881-895. Epub 2021 May 13 doi: 10.1007/s10875-021-01059-7. PMID: 33987750Free PMC Article
Advances in Understanding, Diagnosis, and Treatment of Tinnitus.
Tang D, Li H, Chen L
Adv Exp Med Biol 2019;1130:109-128. doi: 10.1007/978-981-13-6123-4_7. PMID: 30915704
Familial Exudative Vitreoretinopathy: Pathophysiology, Diagnosis, and Management.
Tauqeer Z, Yonekawa Y
Asia Pac J Ophthalmol (Phila) 2018 May-Jun;7(3):176-182. Epub 2018 Apr 9 doi: 10.22608/APO.201855. PMID: 29633588

Recent clinical studies

Etiology

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
Etiology and genes.
Matsunaga T
Adv Otorhinolaryngol 2014;75:2-8. Epub 2013 Oct 11 doi: 10.1159/000350491. PMID: 24135340
Microtia: epidemiology and genetics.
Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC
Am J Med Genet A 2012 Jan;158A(1):124-39. Epub 2011 Nov 21 doi: 10.1002/ajmg.a.34352. PMID: 22106030Free PMC Article
CHARGE syndrome.
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article
Incisionless otoplasty.
Fritsch MH
Facial Plast Surg 2004 Nov;20(4):267-70. doi: 10.1055/s-2005-865384. PMID: 15778913

Diagnosis

Damaging variants in FOXI3 cause microtia and craniofacial microsomia.
Quiat D, Timberlake AT, Curran JJ, Cunningham ML, McDonough B, Artunduaga MA, DePalma SR, Duenas-Roque MM, Gorham JM, Gustafson JA, Hamdan U, Hing AV, Hurtado-Villa P, Nicolau Y, Osorno G, Pachajoa H, Porras-Hurtado GL, Quintanilla-Dieck L, Serrano L, Tumblin M, Zarante I, Luquetti DV, Eavey RD, Heike CL, Seidman JG, Seidman CE
Genet Med 2023 Jan;25(1):143-150. Epub 2022 Oct 19 doi: 10.1016/j.gim.2022.09.005. PMID: 36260083Free PMC Article
Audiometry.
Kaga K
Adv Otorhinolaryngol 2014;75:20-3. Epub 2013 Oct 11 doi: 10.1159/000350596. PMID: 24135344
Microtia: epidemiology and genetics.
Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC
Am J Med Genet A 2012 Jan;158A(1):124-39. Epub 2011 Nov 21 doi: 10.1002/ajmg.a.34352. PMID: 22106030Free PMC Article
Primary ciliary dyskinesia.
Bush A
Acta Otorhinolaryngol Belg 2000;54(3):317-24. PMID: 11082768
Tympanometry.
Shanks JE
Ear Hear 1984 Sep-Oct;5(5):268-80. doi: 10.1097/00003446-198409000-00003. PMID: 6542036

Therapy

Advances in Understanding, Diagnosis, and Treatment of Tinnitus.
Tang D, Li H, Chen L
Adv Exp Med Biol 2019;1130:109-128. doi: 10.1007/978-981-13-6123-4_7. PMID: 30915704
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
Otitis media.
Schilder AG, Chonmaitree T, Cripps AW, Rosenfeld RM, Casselbrant ML, Haggard MP, Venekamp RP
Nat Rev Dis Primers 2016 Sep 8;2(1):16063. doi: 10.1038/nrdp.2016.63. PMID: 27604644Free PMC Article
Primary Ciliary Dyskinesia.
Knowles MR, Zariwala M, Leigh M
Clin Chest Med 2016 Sep;37(3):449-61. Epub 2016 Jun 30 doi: 10.1016/j.ccm.2016.04.008. PMID: 27514592Free 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

Prognosis

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
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Incisionless otoplasty.
Fritsch MH
Facial Plast Surg 2004 Nov;20(4):267-70. doi: 10.1055/s-2005-865384. PMID: 15778913
Tympanometry.
Onusko E
Am Fam Physician 2004 Nov 1;70(9):1713-20. PMID: 15554489
Branchio-oto-renal syndrome.
Rodríguez Soriano J
J Nephrol 2003 Jul-Aug;16(4):603-5. PMID: 14696767

Clinical prediction guides

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
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.
Mathur P, Yang J
Biochim Biophys Acta 2015 Mar;1852(3):406-20. Epub 2014 Dec 4 doi: 10.1016/j.bbadis.2014.11.020. PMID: 25481835Free PMC Article
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Tympanometry.
Onusko E
Am Fam Physician 2004 Nov 1;70(9):1713-20. PMID: 15554489
Perilymphatic fistulas.
Martinez MT, Gianoli GJ
J La State Med Soc 1994 Feb;146(2):43-6. PMID: 8195664

Recent systematic reviews

The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.
Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O'Hare F, Hickey DG, Edwards TL, Ayton LN
Genet Med 2022 Mar;24(3):521-534. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.10.013. PMID: 34906485
Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.
Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM
Am J Med Genet A 2021 Dec;185(12):3884-3894. Epub 2021 Jun 29 doi: 10.1002/ajmg.a.62412. PMID: 34184825
Systemic Aminoglycosides-Induced Vestibulotoxicity in Humans.
Van Hecke R, Van Rompaey V, Wuyts FL, Leyssens L, Maes L
Ear Hear 2017 Nov/Dec;38(6):653-662. doi: 10.1097/AUD.0000000000000458. PMID: 28650850
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
Auditory and vestibular dysfunctions in systemic sclerosis: literature review.
Rabelo MB, Corona AP
Codas 2014 Sep-Oct;26(5):337-42. doi: 10.1590/2317-1782/20140201475. PMID: 25388064

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