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Abnormality of the middle ear

MedGen UID:
348799
Concept ID:
C1861141
Finding
Synonym: Middle ear abnormalities
 
HPO: HP:0000370

Definition

An abnormality of the middle ear. [from HPO]

Conditions with this feature

DiGeorge syndrome
MedGen UID:
4297
Concept ID:
C0012236
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.

Professional guidelines

PubMed

Rosenfeld RM, Tunkel DE, Schwartz SR, Anne S, Bishop CE, Chelius DC, Hackell J, Hunter LL, Keppel KL, Kim AH, Kim TW, Levine JM, Maksimoski MT, Moore DJ, Preciado DA, Raol NP, Vaughan WK, Walker EA, Monjur TM
Otolaryngol Head Neck Surg 2022 Feb;166(1_suppl):S1-S55. doi: 10.1177/01945998211065662. PMID: 35138954
Simon F, Haggard M, Rosenfeld RM, Jia H, Peer S, Calmels MN, Couloigner V, Teissier N
Eur Ann Otorhinolaryngol Head Neck Dis 2018 Feb;135(1S):S33-S39. Epub 2018 Feb 3 doi: 10.1016/j.anorl.2017.11.009. PMID: 29398506
Rosenfeld RM, Shin JJ, Schwartz SR, Coggins R, Gagnon L, Hackell JM, Hoelting D, Hunter LL, Kummer AW, Payne SC, Poe DS, Veling M, Vila PM, Walsh SA, Corrigan MD
Otolaryngol Head Neck Surg 2016 Feb;154(1 Suppl):S1-S41. doi: 10.1177/0194599815623467. PMID: 26832942

Recent clinical studies

Etiology

Shi L, Chen S, Li R, Huang Y
Acta Otolaryngol 2023 Jan;143(1):12-18. Epub 2023 Jan 20 doi: 10.1080/00016489.2023.2168051. PMID: 36661444
Alzhrani F, Alhabib SF, Yousef M
Acta Otorhinolaryngol Ital 2022 Apr;42(2):182-188. doi: 10.14639/0392-100X-N1668. PMID: 35612511Free PMC Article
Frenzel H
Adv Otorhinolaryngol 2018;81:32-42. Epub 2018 Apr 6 doi: 10.1159/000485525. PMID: 29794426
Verheij E, Elden L, Crowley TB, Pameijer FA, Zackai EH, McDonald-McGinn DM, Thomeer HGXM
AJNR Am J Neuroradiol 2018 May;39(5):928-934. Epub 2018 Mar 15 doi: 10.3174/ajnr.A5588. PMID: 29545254Free PMC Article
Luers JC, Hüttenbrink KB
J Anat 2016 Feb;228(2):338-53. Epub 2015 Oct 19 doi: 10.1111/joa.12389. PMID: 26482007Free PMC Article

Diagnosis

McCoul ED
Otolaryngol Head Neck Surg 2021 Oct;165(4):491-492. Epub 2021 Mar 9 doi: 10.1177/0194599821995828. PMID: 33687296
Walker D, Shinners MJ
Pediatr Ann 2016 May 1;45(5):e167-70. doi: 10.3928/00904481-20160401-01. PMID: 27171804
Onusko E
Am Fam Physician 2004 Nov 1;70(9):1713-20. PMID: 15554489
Martinez MT, Gianoli GJ
J La State Med Soc 1994 Feb;146(2):43-6. PMID: 8195664
Shanks JE
Ear Hear 1984 Sep-Oct;5(5):268-80. doi: 10.1097/00003446-198409000-00003. PMID: 6542036

Therapy

Holm NH, Rusan M, Ovesen T
Dan Med J 2020 Oct 29;67(11) PMID: 33215607
Leung AKC, Wong AHC
Recent Pat Inflamm Allergy Drug Discov 2017;11(1):32-40. doi: 10.2174/1874609810666170712145332. PMID: 28707578
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
Rosenfeld RM, Shin JJ, Schwartz SR, Coggins R, Gagnon L, Hackell JM, Hoelting D, Hunter LL, Kummer AW, Payne SC, Poe DS, Veling M, Vila PM, Walsh SA, Corrigan MD
Otolaryngol Head Neck Surg 2016 Feb;154(1 Suppl):S1-S41. doi: 10.1177/0194599815623467. PMID: 26832942
Kreuzer PM, Landgrebe M, Vielsmeier V, Kleinjung T, De Ridder D, Langguth B
J Head Trauma Rehabil 2014 Sep-Oct;29(5):432-42. doi: 10.1097/HTR.0b013e31829d3129. PMID: 23982788

Prognosis

Zhang H, Han Z, Li Y, Lin J, Zou Y
Acta Otolaryngol 2023 Nov;143(sup1):S45-S48. Epub 2024 Feb 13 doi: 10.1080/00016489.2023.2281504. PMID: 38113167
Worley ML, Patel KG, Kilpatrick LA
Clin Perinatol 2018 Dec;45(4):661-678. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.006. PMID: 30396411
Karanth TK, Whittemore KR
Auris Nasus Larynx 2018 Dec;45(6):1143-1151. doi: 10.1016/j.anl.2018.04.012. PMID: 29764722
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Onusko E
Am Fam Physician 2004 Nov 1;70(9):1713-20. PMID: 15554489

Clinical prediction guides

Otteson T
Pediatr Clin North Am 2022 Apr;69(2):203-219. doi: 10.1016/j.pcl.2022.01.001. PMID: 35337534
Siow JK, Tan JL
Curr Opin Otolaryngol Head Neck Surg 2020 Feb;28(1):31-35. doi: 10.1097/MOO.0000000000000601. PMID: 31789929
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Onusko E
Am Fam Physician 2004 Nov 1;70(9):1713-20. PMID: 15554489
Martinez MT, Gianoli GJ
J La State Med Soc 1994 Feb;146(2):43-6. PMID: 8195664

Recent systematic reviews

Rooijers W, Tio PAE, van der Schroeff MP, Padwa BL, Dunaway DJ, Forrest CR, Koudstaal MJ, Caron CJJM
Int J Oral Maxillofac Surg 2022 Oct;51(10):1296-1304. Epub 2022 Feb 3 doi: 10.1016/j.ijom.2022.01.005. PMID: 35125269
Rosso C, Bulfamante AM, Pipolo C, Fuccillo E, Maccari A, Lozza P, Scotti A, Pisani A, Castellani L, De Donato G, Tavilla MC, Portaleone SM, Felisati G, Saibene AM
Eur Arch Otorhinolaryngol 2022 Mar;279(3):1175-1180. Epub 2021 Aug 28 doi: 10.1007/s00405-021-07035-6. PMID: 34453572Free PMC Article
Zhang K, Fried J, Nguyen SA, Meyer TA, White DR
Ear Hear 2022 Jan/Feb;43(1):23-31. doi: 10.1097/AUD.0000000000001082. PMID: 34282088
Groff D, Sun A, Ssentongo AE, Ba DM, Parsons N, Poudel GR, Lekoubou A, Oh JS, Ericson JE, Ssentongo P, Chinchilli VM
JAMA Netw Open 2021 Oct 1;4(10):e2128568. doi: 10.1001/jamanetworkopen.2021.28568. PMID: 34643720Free PMC Article
Holm NH, Rusan M, Ovesen T
Dan Med J 2020 Oct 29;67(11) PMID: 33215607

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