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Congenital Microtia

MedGen UID:
827249
•Concept ID:
C3850155
•
Congenital Abnormality
Synonyms: Congenital Microtias; Microtia, Congenital; Microtias, Congenital

Definition

A condition in which the external ear is underdeveloped or malformed. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Microtia

Professional guidelines

PubMed

The role of MRI in the prenatal diagnosis and classification of fetal microtia.
Zhang X, Zheng W, Feng Y, Yu N, Qin J, Li K, Yan G, Zou Y, Li B
Eur Radiol 2023 Nov;33(11):7707-7715. Epub 2023 Jun 14 doi: 10.1007/s00330-023-09816-5. PMID: 37311804Free PMC Article

Recent clinical studies

Etiology

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS
Eur J Hum Genet 2023 Aug;31(8):859-868. Epub 2023 Apr 14 doi: 10.1038/s41431-023-01359-z. PMID: 37059840Free PMC Article
Vertebral Anomalies in Microtia Patients at a Tertiary Pediatric Care Center.
Alexander NL, McLennan A, Silva RC, Hosek K, Liu YC
Otolaryngol Head Neck Surg 2023 Aug;169(2):367-373. Epub 2023 Feb 17 doi: 10.1002/ohn.289. PMID: 36805618
Microtia and Related Facial Anomalies.
Hartzell LD, Chinnadurai S
Clin Perinatol 2018 Dec;45(4):679-697. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.007. PMID: 30396412
Meier-Gorlin syndrome.
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Orphanet J Rare Dis 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. PMID: 26381604Free PMC Article
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

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
Auricular reconstruction.
Cubitt JJ, Chang LY, Liang D, Vandervord J, Marucci DD
J Paediatr Child Health 2019 May;55(5):512-517. Epub 2019 Mar 28 doi: 10.1111/jpc.14444. PMID: 30920067
Microtia Reconstruction.
Bly RA, Bhrany AD, Murakami CS, Sie KC
Facial Plast Surg Clin North Am 2016 Nov;24(4):577-591. doi: 10.1016/j.fsc.2016.06.011. PMID: 27712823Free PMC Article
Meier-Gorlin syndrome.
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Orphanet J Rare Dis 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. PMID: 26381604Free PMC Article
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

Therapy

Epidemiological Study of Neonatal Congenital Microtia in Shandong Province, China, 2011-2020.
Sun P, Lin Q, Zhang M, Liu Z, Zhu L
J Craniofac Surg 2022 Nov-Dec 01;33(8):e828-e831. Epub 2022 Jul 18 doi: 10.1097/SCS.0000000000008761. PMID: 35848724
Autologous cartilage microtia reconstruction: Complications and risk factors.
Fu YY, Li CL, Zhang JL, Zhang TY
Int J Pediatr Otorhinolaryngol 2019 Jan;116:1-6. Epub 2018 Oct 2 doi: 10.1016/j.ijporl.2018.09.035. PMID: 30554677
Autologous Costochondral Microtia Reconstruction.
Patel SA, Bhrany AD, Murakami CS, Sie KC
Facial Plast Surg 2016 Apr;32(2):188-98. Epub 2016 Apr 20 doi: 10.1055/s-0036-1582229. PMID: 27097140
Sociodemographic and hispanic acculturation factors and isolated anotia/microtia.
Hoyt AT, Canfield MA, Shaw GM, Waller DK, Polen KN, Ramadhani T, Anderka MT, Scheuerle AE; National Birth Defects Prevention Study
Birth Defects Res A Clin Mol Teratol 2014 Nov;100(11):852-62. Epub 2014 Jul 30 doi: 10.1002/bdra.23282. PMID: 25074828Free PMC Article
Hair removal.
Watanabe T, Onomura M, Asato H
Adv Otorhinolaryngol 2014;75:124-8. Epub 2013 Oct 11 doi: 10.1159/000350981. PMID: 24135366

Prognosis

Epidemiological Study of Neonatal Congenital Microtia in Shandong Province, China, 2011-2020.
Sun P, Lin Q, Zhang M, Liu Z, Zhu L
J Craniofac Surg 2022 Nov-Dec 01;33(8):e828-e831. Epub 2022 Jul 18 doi: 10.1097/SCS.0000000000008761. PMID: 35848724
Autologous cartilage microtia reconstruction: Complications and risk factors.
Fu YY, Li CL, Zhang JL, Zhang TY
Int J Pediatr Otorhinolaryngol 2019 Jan;116:1-6. Epub 2018 Oct 2 doi: 10.1016/j.ijporl.2018.09.035. PMID: 30554677
Microtia and Related Facial Anomalies.
Hartzell LD, Chinnadurai S
Clin Perinatol 2018 Dec;45(4):679-697. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.007. PMID: 30396412
Auricular Prostheses in Microtia.
Federspil PA
Facial Plast Surg Clin North Am 2018 Feb;26(1):97-104. doi: 10.1016/j.fsc.2017.09.007. PMID: 29153193
Bilateral microtia reconstruction.
Liu X, Zhang Q, Quan Y, Xie Y, Shi L
J Plast Reconstr Aesthet Surg 2010 Aug;63(8):1275-8. Epub 2009 Aug 19 doi: 10.1016/j.bjps.2009.07.017. PMID: 19695972

Clinical prediction guides

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS
Eur J Hum Genet 2023 Aug;31(8):859-868. Epub 2023 Apr 14 doi: 10.1038/s41431-023-01359-z. PMID: 37059840Free PMC Article
Microtia in a Chinese Specialty Clinic Population: Clinical Heterogeneity and Associated Congenital Anomalies.
Zhang Y, Jiang H, Yang Q, He L, Yu X, Huang X, Wu R, Yang M, Li C, Pan B
Plast Reconstr Surg 2018 Dec;142(6):892e-903e. doi: 10.1097/PRS.0000000000005066. PMID: 30489530
Hearing Rehabilitation in Congenital Middle Ear Malformation.
Frenzel H
Adv Otorhinolaryngol 2018;81:32-42. Epub 2018 Apr 6 doi: 10.1159/000485525. PMID: 29794426
Microtia Reconstruction.
Bly RA, Bhrany AD, Murakami CS, Sie KC
Facial Plast Surg Clin North Am 2016 Nov;24(4):577-591. doi: 10.1016/j.fsc.2016.06.011. PMID: 27712823Free PMC Article
Microtia in the Netherlands: clinical characteristics and associated anomalies.
van Nunen DP, Kolodzynski MN, van den Boogaard MJ, Kon M, Breugem CC
Int J Pediatr Otorhinolaryngol 2014 Jun;78(6):954-9. Epub 2014 Mar 30 doi: 10.1016/j.ijporl.2014.03.024. PMID: 24745583

Recent systematic reviews

Genotype-phenotype associations in microtia: a systematic review.
Wahdini SI, Idamatussilmi F, Pramanasari R, Prawoto AN, Wungu CDK, Putri IL, Gunadi
Orphanet J Rare Dis 2024 Apr 9;19(1):152. doi: 10.1186/s13023-024-03142-9. PMID: 38594752Free PMC Article
Risk Factors of Isolated Microtia: A Systematic Review and Meta-Analysis.
Huang Y, Huang X, Li K, Yang Q
Plast Reconstr Surg 2023 Apr 1;151(4):651e-663e. Epub 2022 Dec 9 doi: 10.1097/PRS.0000000000010007. PMID: 36729823
Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review.
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
Patient-Reported Satisfaction After Autologous Auricular Reconstruction in Patients with Microtia: A Systematic Review.
Khan N, Willette D, Melkonian J, Ziegler M, Widgerow AD
Facial Plast Surg Aesthet Med 2022 Nov-Dec;24(6):478-486. Epub 2022 Jan 25 doi: 10.1089/fpsam.2021.0265. PMID: 35076253
Long-term aesthetics, patient-reported outcomes, and auricular sensitivity after microtia reconstruction: A systematic review.
Ronde EM, Esposito M, Lin Y, van Etten-Jamaludin FS, Bulstrode NW, Breugem CC
J Plast Reconstr Aesthet Surg 2021 Dec;74(12):3213-3234. Epub 2021 Aug 19 doi: 10.1016/j.bjps.2021.08.004. PMID: 34489212

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