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External ear malformation

MedGen UID:
506236
•Concept ID:
CN007542
•
Finding

Professional guidelines

PubMed

Clinical Practice Guideline: Tympanostomy Tubes in Children (Update).
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
TFOS DEWS II Management and Therapy Report.
Jones L, Downie LE, Korb D, Benitez-Del-Castillo JM, Dana R, Deng SX, Dong PN, Geerling G, Hida RY, Liu Y, Seo KY, Tauber J, Wakamatsu TH, Xu J, Wolffsohn JS, Craig JP
Ocul Surf 2017 Jul;15(3):575-628. Epub 2017 Jul 20 doi: 10.1016/j.jtos.2017.05.006. PMID: 28736343
Clinical practice guideline: tinnitus.
Tunkel DE, Bauer CA, Sun GH, Rosenfeld RM, Chandrasekhar SS, Cunningham ER Jr, Archer SM, Blakley BW, Carter JM, Granieri EC, Henry JA, Hollingsworth D, Khan FA, Mitchell S, Monfared A, Newman CW, Omole FS, Phillips CD, Robinson SK, Taw MB, Tyler RS, Waguespack R, Whamond EJ
Otolaryngol Head Neck Surg 2014 Oct;151(2 Suppl):S1-S40. doi: 10.1177/0194599814545325. PMID: 25273878

Recent clinical studies

Etiology

Clinical characteristics and neuroimaging findings of seven patients with Dyke Davidoff Masson syndrome.
Wang B, Jiang W, Yan W, Tian J, Xu J, Li Y, Zhao Y, Dai Y, Cheng G, Hou G
BMC Neurol 2021 May 31;21(1):213. doi: 10.1186/s12883-021-02242-4. PMID: 34053436Free PMC Article
In Vitro Regeneration of Patient-specific Ear-shaped Cartilage and Its First Clinical Application for Auricular Reconstruction.
Zhou G, Jiang H, Yin Z, Liu Y, Zhang Q, Zhang C, Pan B, Zhou J, Zhou X, Sun H, Li D, He A, Zhang Z, Zhang W, Liu W, Cao Y
EBioMedicine 2018 Feb;28:287-302. Epub 2018 Jan 13 doi: 10.1016/j.ebiom.2018.01.011. PMID: 29396297Free PMC Article
Cleft Lip and/or Palate and Auricular Malformations.
Suutarla S, Rautio J, Klockars T
Cleft Palate Craniofac J 2015 Jan;52(1):62-5. doi: 10.1597/13-069. PMID: 24437583
HEAR MAPS a classification for congenital microtia/atresia based on the evaluation of 742 patients.
Roberson JB Jr, Goldsztein H, Balaker A, Schendel SA, Reinisch JF
Int J Pediatr Otorhinolaryngol 2013 Sep;77(9):1551-4. Epub 2013 Aug 7 doi: 10.1016/j.ijporl.2013.07.002. PMID: 23931903
Mobius sequence--a Swedish multidiscipline study.
Strömland K, Sjögreen L, Miller M, Gillberg C, Wentz E, Johansson M, Nylén O, Danielsson A, Jacobsson C, Andersson J, Fernell E
Eur J Paediatr Neurol 2002;6(1):35-45. doi: 10.1053/ejpn.2001.0540. PMID: 11993954

Diagnosis

Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity.
Boschann F, Kosmehl S, Bloching M, Grünhagen J, Hildebrand G, Horn D, Lyutenski S
Am J Med Genet A 2023 Apr;191(4):1128-1132. Epub 2023 Jan 27 doi: 10.1002/ajmg.a.63122. PMID: 36708132
Clinical characteristics and neuroimaging findings of seven patients with Dyke Davidoff Masson syndrome.
Wang B, Jiang W, Yan W, Tian J, Xu J, Li Y, Zhao Y, Dai Y, Cheng G, Hou G
BMC Neurol 2021 May 31;21(1):213. doi: 10.1186/s12883-021-02242-4. PMID: 34053436Free PMC Article
HEAR MAPS a classification for congenital microtia/atresia based on the evaluation of 742 patients.
Roberson JB Jr, Goldsztein H, Balaker A, Schendel SA, Reinisch JF
Int J Pediatr Otorhinolaryngol 2013 Sep;77(9):1551-4. Epub 2013 Aug 7 doi: 10.1016/j.ijporl.2013.07.002. PMID: 23931903
Surgical management of polyotia.
Pan B, Qie S, Zhao Y, Tang X, Lin L, Yang Q, Zhuang H, Jiang H
J Plast Reconstr Aesthet Surg 2010 Aug;63(8):1283-8. Epub 2009 Jul 18 doi: 10.1016/j.bjps.2009.06.037. PMID: 19617017
Mobius sequence--a Swedish multidiscipline study.
Strömland K, Sjögreen L, Miller M, Gillberg C, Wentz E, Johansson M, Nylén O, Danielsson A, Jacobsson C, Andersson J, Fernell E
Eur J Paediatr Neurol 2002;6(1):35-45. doi: 10.1053/ejpn.2001.0540. PMID: 11993954

Therapy

Congenital Esophageal Atresia and Microtia in a Newborn Secondary to Mycophenolate Mofetil Exposure During Pregnancy: A Case Report and Review of the Literature.
Alsebayel MM, Abaalkhail FA, Alsebayel FM, Alissa DA, Al-Jedai AH, Elsiesy H
Am J Case Rep 2018 May 3;19:523-526. doi: 10.12659/AJCR.908433. PMID: 29720579Free PMC Article
In Vitro Regeneration of Patient-specific Ear-shaped Cartilage and Its First Clinical Application for Auricular Reconstruction.
Zhou G, Jiang H, Yin Z, Liu Y, Zhang Q, Zhang C, Pan B, Zhou J, Zhou X, Sun H, Li D, He A, Zhang Z, Zhang W, Liu W, Cao Y
EBioMedicine 2018 Feb;28:287-302. Epub 2018 Jan 13 doi: 10.1016/j.ebiom.2018.01.011. PMID: 29396297Free PMC Article
Bradycardia with sevoflurane in siblings with Branchio-oto-renal syndrome.
Taylor MH, Wilton NC
Paediatr Anaesth 2007 Jan;17(1):80-3. doi: 10.1111/j.1460-9592.2006.02024.x. PMID: 17184439

Prognosis

Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review.
Jiang J, Feng Y, Tang Q, Zhao C, Guo M, Wu J, Guo R, Lu H, Sun X, Gao J, Xue H
Mol Genet Genomic Med 2024 Jan;12(1):e2326. Epub 2023 Nov 28 doi: 10.1002/mgg3.2326. PMID: 38014478Free PMC Article
In Vitro Regeneration of Patient-specific Ear-shaped Cartilage and Its First Clinical Application for Auricular Reconstruction.
Zhou G, Jiang H, Yin Z, Liu Y, Zhang Q, Zhang C, Pan B, Zhou J, Zhou X, Sun H, Li D, He A, Zhang Z, Zhang W, Liu W, Cao Y
EBioMedicine 2018 Feb;28:287-302. Epub 2018 Jan 13 doi: 10.1016/j.ebiom.2018.01.011. PMID: 29396297Free PMC Article
HEAR MAPS a classification for congenital microtia/atresia based on the evaluation of 742 patients.
Roberson JB Jr, Goldsztein H, Balaker A, Schendel SA, Reinisch JF
Int J Pediatr Otorhinolaryngol 2013 Sep;77(9):1551-4. Epub 2013 Aug 7 doi: 10.1016/j.ijporl.2013.07.002. PMID: 23931903
Branchio-oto-renal syndrome.
Rodríguez Soriano J
J Nephrol 2003 Jul-Aug;16(4):603-5. PMID: 14696767
Mobius sequence--a Swedish multidiscipline study.
Strömland K, Sjögreen L, Miller M, Gillberg C, Wentz E, Johansson M, Nylén O, Danielsson A, Jacobsson C, Andersson J, Fernell E
Eur J Paediatr Neurol 2002;6(1):35-45. doi: 10.1053/ejpn.2001.0540. PMID: 11993954

Clinical prediction guides

Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.
Zhang Y, Zhao Y, Dai L, Liu Y, Shi Z
Mol Genet Genomic Med 2024 Apr;12(4):e2441. doi: 10.1002/mgg3.2441. PMID: 38618928Free PMC Article
Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review.
Jiang J, Feng Y, Tang Q, Zhao C, Guo M, Wu J, Guo R, Lu H, Sun X, Gao J, Xue H
Mol Genet Genomic Med 2024 Jan;12(1):e2326. Epub 2023 Nov 28 doi: 10.1002/mgg3.2326. PMID: 38014478Free PMC Article
Clinical characteristics and neuroimaging findings of seven patients with Dyke Davidoff Masson syndrome.
Wang B, Jiang W, Yan W, Tian J, Xu J, Li Y, Zhao Y, Dai Y, Cheng G, Hou G
BMC Neurol 2021 May 31;21(1):213. doi: 10.1186/s12883-021-02242-4. PMID: 34053436Free PMC Article
A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.
Hing AV, Leblond C, Sze RW, Starr JR, Monks S, Parisi MA
Am J Med Genet A 2006 Apr 15;140(8):804-12. doi: 10.1002/ajmg.a.31160. PMID: 16523509
Mobius sequence--a Swedish multidiscipline study.
Strömland K, Sjögreen L, Miller M, Gillberg C, Wentz E, Johansson M, Nylén O, Danielsson A, Jacobsson C, Andersson J, Fernell E
Eur J Paediatr Neurol 2002;6(1):35-45. doi: 10.1053/ejpn.2001.0540. PMID: 11993954

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