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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]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal ear physiology

Professional guidelines

PubMed

Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML
J Clin Immunol 2023 Feb;43(2):247-270. Epub 2023 Jan 17 doi: 10.1007/s10875-022-01418-y. PMID: 36648576Free 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
Middle ear disease in children. Pathogenesis, diagnosis, and management.
Bluestone CD, Shurin PA
Pediatr Clin North Am 1974 May;21(2):379-400. doi: 10.1016/s0031-3955(16)32996-0. PMID: 4134815

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
Incisionless otoplasty.
Fritsch MH
Facial Plast Surg 2004 Nov;20(4):267-70. doi: 10.1055/s-2005-865384. PMID: 15778913
Fragile X checklist.
Hagerman RJ, Amiri K, Cronister A
Am J Med Genet 1991 Feb-Mar;38(2-3):283-7. doi: 10.1002/ajmg.1320380223. PMID: 2018072
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

Diagnosis

Branchial arch syndromes.
Alfi D, Lam D, Gateno J
Atlas Oral Maxillofac Surg Clin North Am 2014 Sep;22(2):167-73. Epub 2014 Jul 15 doi: 10.1016/j.cxom.2014.04.003. PMID: 25171997
Audiometry.
Kaga K
Adv Otorhinolaryngol 2014;75:20-3. Epub 2013 Oct 11 doi: 10.1159/000350596. PMID: 24135344
Townes-Brocks syndrome.
Powell CM, Michaelis RC
J Med Genet 1999 Feb;36(2):89-93. PMID: 10051003Free PMC Article
Rubinstein-Taybi syndrome.
Berry AC
J Med Genet 1987 Sep;24(9):562-6. doi: 10.1136/jmg.24.9.562. PMID: 3312608Free PMC Article
Diastrophic dwarfism.
Walker BA, Scott CI, Hall JG, Murdoch JL, McKusick VA
Medicine (Baltimore) 1972 Jan;51(1):41-59. doi: 10.1097/00005792-197201000-00003. PMID: 4621588

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
Molecular aspects of tinnitus.
Knipper M, Zimmermann U, Müller M
Hear Res 2010 Jul;266(1-2):60-9. Epub 2009 Aug 3 doi: 10.1016/j.heares.2009.07.013. PMID: 19651198

Prognosis

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
Familial cryptotia.
Hayashi R, Matsuo K, Hirose T
Plast Reconstr Surg 1993 Jun;91(7):1337-9. doi: 10.1097/00006534-199306000-00024. PMID: 8497537

Clinical prediction guides

Vestibular impairment in Charcot-Marie-Tooth disease.
Akdal G, Koçoğlu K, Tanrıverdizade T, Bora E, Bademkıran F, Yüceyar AN, Ekmekçi Ö, Şengün İŞ, Karasoy H
J Neurol 2021 Feb;268(2):526-531. Epub 2020 Aug 30 doi: 10.1007/s00415-020-10186-x. PMID: 32862243
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
Incisionless otoplasty.
Fritsch MH
Facial Plast Surg 2004 Nov;20(4):267-70. doi: 10.1055/s-2005-865384. PMID: 15778913
Nasal dysplasia.
de Blécourt RA, Roddi R, Berg JP, Bloem JJ
Ann Plast Surg 1996 Dec;37(6):633-7. doi: 10.1097/00000637-199612000-00011. PMID: 8988777
Fragile X checklist.
Hagerman RJ, Amiri K, Cronister A
Am J Med Genet 1991 Feb-Mar;38(2-3):283-7. doi: 10.1002/ajmg.1320380223. PMID: 2018072

Recent systematic reviews

Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Chen A, Song J, Acke FRE, Mei L, Cai X, Feng Y, He C
Clin Genet 2021 Jul;100(1):3-13. Epub 2021 Mar 21 doi: 10.1111/cge.13949. PMID: 33624842
Current evidence of peripheral vestibular symptoms secondary to otitis media.
Monsanto RDC, Kasemodel ALP, Tomaz A, Paparella MM, Penido NO
Ann Med 2018 Aug;50(5):391-401. Epub 2018 May 6 doi: 10.1080/07853890.2018.1470665. PMID: 29699430
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
Audiovestibular Function Deficits in Vestibular Schwannoma.
von Kirschbaum C, Gürkov R
Biomed Res Int 2016;2016:4980562. Epub 2016 Sep 22 doi: 10.1155/2016/4980562. PMID: 27747231Free PMC Article
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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