Facial Plast Surg 2009; 25(3): 145-148
DOI: 10.1055/s-0029-1239444
© Thieme Medical Publishers

Embryology and Epidemiology of Microtia

Tuomas Klockars1 , Jorma Rautio2
  • 1Department of Otorhinolaryngology, Helsinki University Central Hospital, Helsinki, Finland
  • 2Department of Plastic Surgery, Helsinki University Central Hospital, Helsinki, Finland
Further Information

Publication History

Publication Date:
06 October 2009 (online)

ABSTRACT

The auricle derives from six hillocks arising from the first and second branchial arches. Different hillocks give rise to different parts of the pinna. In the course of embryonic development, the auricle migrates postero-cranially as the mandible enlarges. Auricular malformations, such as microtia, are thought to be related to cell death of the first and second arch derivatives. The prevalence and characteristics of microtia vary in different populations. The prevalence ranges from 0.83 to 17.4 per 10,000. Microtia is more common in males, and right-sided dominance varies from 57 to 67%. The prevalence of aural atresia or stenosis varies from 55 to 93%. Microtia has been associated with numerous risk factors including race and gender. Genetic factors are likely to have an effect at least in some patients with microtia.

REFERENCES

  • 1 Sulik K K. Embryology of the ear. In: Gorlin RJ, Toriello HV, Cohen MM Hereditary Hearing Loss and Its Syndromes. New York, NY; Oxford University Press 1995: 22-42
  • 2 Moldenhauer W. Die Entwicklung des mitteleren und des äusseren Ohres.  Morph Jahrb. 1877;  3 106-151
  • 3 His W. 1882. Auf Stellung von Entwicklungsnormen, zweiter Monat.  Anatomie menschlicher Embryonen Teil II. 1882;  55-62
  • 4 His W. 1885. Die Formenwicklungdles äusseren Ohres.  Anatomie menschlicher Embryonen Teil III. 1885;  211-221
  • 5 Streeter G L. Development of the auricle in the human embryo.  Contrib Embryol. 1922;  69 111-139
  • 6 Karmody C S, Annino Jr D J. Embryology and anomalies of the external ear.  Facial Plast Surg. 1995;  11 251-256
  • 7 Park C. Lower auricular malformations: their representation, correction, and embryologic correlation.  Plast Reconstr Surg. 1999;  104 29-40
  • 8 Hunter A GW, Yotsuyanagi T. The external ear: more attention to detail may aid syndrome diagnosis and contribute answers to embryological questions.  Am J Med Genet A. 2005;  135 237-250
  • 9 Sulik K K, Johnston M C, Smiley S J, Speight H S, Jarvis B E. Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis.  Am J Med Genet. 1987;  27 359-372
  • 10 Eavey R D. Microtia and significant auricular malformation. Ninety-two pediatric patients.  Arch Otolaryngol Head Neck Surg. 1995;  121 57-62
  • 11 Castilla E E, Orioli I M. Prevalence rates of microtia in South America.  Int J Epidemiol. 1986;  15 364-368
  • 12 Harris J, Källén B, Robert E. The epidemiology of anotia and microtia.  J Med Genet. 1996;  33 809-813
  • 13 Stoll C, Ayme S, Beckers R EUROCAT Working Group et al. Distribution of single organ malformations in European populations.  Ann Genet. 1995;  38 32-43
  • 14 Suutarla S, Rautio J, Ritvanen A, Ala-Mello S, Jero J, Klockars T. Microtia in Finland: comparison of characteristics in different populations.  Int J Pediatr Otorhinolaryngol. 2007;  71 1211-1217
  • 15 Shaw G M, Carmichael S L, Kaidarova Z, Harris J A. Epidemiologic characteristics of anotia and microtia in California, 1989–1997.  Birth Defects Res A Clin Mol Teratol. 2004;  70 472-475
  • 16 Husain T, Langlois P H, Sever L E, Gambello M J. Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996–2002.  Birth Defects Res A Clin Mol Teratol. 2008;  82 435-440
  • 17 Forrester M B, Merz R D. Descriptive epidemiology of anotia and microtia, Hawaii, 1986–2002.  Congenit Anom (Kyoto). 2005;  45 119-124
  • 18 Nelson S M, Berry R I. Ear disease and hearing loss among Navajo children—a mass survey.  Laryngoscope. 1984;  94 316-323
  • 19 Zhu J, Wang Y, Liang J, Zhou G. [An epidemiological investigation of anotia and microtia in China during 1988–1992].  Zhonghua Er Bi Yan Hou Ke Za Zhi. 2000;  35 62-65
  • 20 Grabb W C. The first and second branchial arch syndrome.  Plast Reconstr Surg. 1965;  36 485-508
  • 21 Rollnick B R, Kaye C I, Nagatoshi K, Hauck W, Martin A O. Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients.  Am J Med Genet. 1987;  26 361-375
  • 22 Gorlin R J, Jue K L, Jacobsen U, Goldschmidt E. Oculoauriculovertebral dysplasia.  J Pediatr. 1963;  63 991-999
  • 23 Tasse C, Böhringer S, Fischer S et al.. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.  Eur J Med Genet. 2005;  48 397-411
  • 24 Peters PWJ Congenital Malformations Worldwide: A Report from the International Clearinghouse for Birth Defects Monitoring Systems. Amsterdam, The Netherlands; Elsevier 1991
  • 25 Mastroiacovo P, Corchia C, Botto L D, Lanni R, Zampino G, Fusco D. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births.  J Med Genet. 1995;  32 453-457
  • 26 Llano-Rivas I, González-del Angel A, del Castillo V, Reyes R, Carnevale A. Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City.  Arch Med Res. 1999;  30 120-124
  • 27 Okajima H, Takeichi Y, Umeda K, Baba S. Clinical analysis of 592 patients with microtia.  Acta Otolaryngol Suppl. 1996;  525 18-24
  • 28 Klockars T, Suutarla S, Kentala E, Ala-Mello S, Rautio J. Inheritance of microtia in the Finnish population.  Int J Pediatr Otorhinolaryngol. 2007;  71 1783-1788
  • 29 Alasti F, Van Camp G. Genetics of microtia and associated syndromes.  J Med Genet. 2009;  46 361-369
  • 30 McLeod N, Urioste M A. Birth prevalence of microtia in Sucre, Bolivia.  Acta Otolaryngol. 2007;  127 784
  • 31 Nazer J, Lay-Son G, Cifuentes L. [Prevalence of microtia and anotia at the maternity of the University of Chile Clinical Hospital].  Rev Med Chil. 2006;  134 1295-1301

Jorma RautioM.D. 

Cleft and Craniofacial Centre, Department of Plastic Surgery, Helsinki University Central Hospital

PL 266, FIN-00029 HUS, Helsinki, Finland

Email: jorma.rautio@hus.fi

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