Microtia-anotia: A global review of prevalence rates

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 91, Issue 9, 2011, Pages 813-822

  Luquetti, Daniela Varela ^a   Leoncini, Emanuele ^b   Mastroiacovo, Pierpaolo ^b  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b Centre of the International Clearinghouse for Birth Defects Surveillance and Research   (Italy)

Author keywords

Anotia; Birth defects; Ear; Epidemiology; Microtia; Microtia anotia; Prevalence

Indexed keywords

ARTICLE; AUDITORY LATERALIZATION; BIRTH DEFECT; DEMOGRAPHY; DISEASE SEVERITY; DISEASE SURVEILLANCE; ETHNICITY; HUMAN; MICROTIA; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SYSTEMATIC REVIEW;

CONGENITAL ABNORMALITIES; DATABASES, FACTUAL; EAR; FEMALE; HUMANS; MALE; PREVALENCE; RISK FACTORS; SEVERITY OF ILLNESS INDEX;

EID: 80052596799     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20836     Document Type: Article

References (46)

1. Aase JM, Tegtmeier RE. 1977. Microtia in New Mexico: evidence for multifactorial causation. Birth Defects Orig Artic Ser 13: 113-116.
2. Alasti F, Van Camp G. 2009. Genetics of microtia and associated syndromes. J Med Genet 46: 361-369.
3. Anderka MT, Lin AE, Abuelo DN, et al. 2009. Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature. Am J Med Genet A 149A: 1241-1248.
4. Artunduaga MA, Quintanilla-Dieck MD, Greenway S, et al. 2009. A classic twin study of external ear malformations, including microtia. N Engl J Med 361: 1216-1218.
5. Balci S. 1974. Familial microtia with meatal atresia in father and son. Turk J Pediatr 16: 140-143.
6. Balci S, Boduroǧlu K, Kaya S. 2001. Familial microtia in four generations with variable expressivity and incomplete penetrance in association with type I syndactyly. Turk J Pediatr 43: 362-365.
7. Canfield MA, Langlois PH, Nguyen LM, Scheuerle AE. 2009. Epidemiologic features and clinical subgroups of anotia/microtia in Texas. Birth Defects Res A Clin Mol Teratol 85: 905-913.
8. Carey JC, Park AH, Muntz HR. 2006. External ear. In: Stevenson RE, editor. Human malformations and related anomalies. Oxford; New York: Oxford University Press. pp 329-338.
9. Castilla EE, Lopez-Camelo JS, Campaña H. 1999. Altitude as a risk factor for congenital anomalies. Am J Med Genet 86: 9-14.
10. Castilla EE, Orioli IM. 1986. Prevalence rates of microtia in South America. Int J Epidemiol 15: 364-368.
11. Chang SO, Choi BY, Hur DG. 2006. Analysis of the long-term hearing results after the surgical repair of aural atresia. Laryngoscope 116: 1835-1841.
12. Eavey RD. 1995. Microtia and significant auricular malformation. Ninety-two pediatric patients. Arch Otolaryngol Head Neck Surg 121: 57-62.
13. European Surveillance of Congenital Anomalies. 2010. Retrieved 01 February 2010; Available from:.
14. Forrester MB, Merz RD. 2005. Descriptive epidemiology of anotia and microtia, Hawaii, 1986-2002. Congenit Anom (Kyoto) 45: 119-124.
15. González-Andrade F, López-Pulles R, Espín VH, et al. 2010. High altitude and microtia in Ecuadorian patients. J Neonatal Perinatal Med 3: 109-116.
16. Gupta A, Patton MA. 1995. Familial microtia with meatal atresia and conductive deafness in five generations. Am J Med Genet 59: 238-241.
17. Habiballah JA, Bamousa A. 2000. Allograftic and alloplastic auricular reconstruction. Saudi Med J 21: 1173-1177.
18. Halder I, Shriver M, Thomas M, et al. 2008. A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications. Hum Mutat 29: 648-658.
19. Harris J, Kallen B, Robert E, et al. 1996. The epidemiology of anotia and microtia. J Med Genet 33: 809-813.
20. Hunter A, Frias JL, Gillessen-Kaesbach G, et al. 2009. Elements of morphology: standard terminology for the ear. Am J Med Genet A 149A: 40-60.
21. Husain T, Langlois PH, Sever LE, et al. 2008. 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 82: 435-440.
22. International Clearinghouse for Birth Defects Surveillance and Research. Annual Report 2008. 2010. Retrieved 01 February 2010; Available from:.
23. Jaffe BF. 1969. Incidence of ear diseases in Navajo Indians. Laryngoscope 79: 2126-2134.
24. Jobling MA, Hurles M, Tyler-Smith C. 2004. Human evolutionary genetics: origins, peoples and disease. In: Science G, editor. New York. p 523.
25. Kaye CI, Rollnick BR, Hauck WW, et al. 1989. Microtia and associated anomalies: statistical analysis. Am J Med Genet 34: 574-578.
26. Kelley PE, Scholes MA. 2007. Microtia and congenital aural atresia. Otolaryngol Clin North Am 40: 61-80.
27. Klieger-Grossmann C, Chitayat D, Lavign S, et al. 2010. Prenatal exposure to mycophenolate mofetil: an updated estimate. J Obstet Gynaecol Can 32: 794-797.
28. Klockars T, Suutarla S, Kentala E, et al. 2007. Inheritance of microtia in the Finnish population. Int J Pediatr Otorhinolaryngol 71: 1783-1788.
29. Lin L, Pan B, Jiang HY, et al. 2009. Study of methylation of promoter of EYA1 gene in microtia. Zhonghua Zheng Xing Wai Ke Za Zhi 25: 436-439.
30. Llano-Rivas I, Gonzalez-del Angel A, del Castillo V, et al. 1999. Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City. Arch Med Res 30: 120-124.
31. Luquetti DV, Cunningham ML, Castilla EE. 2010. Prevalence analysis of 1, 379 cases of isolated microtia from South America. Thirty-first Annual David W Smith Workshop on Malformations and Morphogenesis. Alderbrook Resort, Union, WA.
32. Ma C, Carmichael SL, Scheuerle AE, et al. 2010. Association of microtia with maternal obesity and periconceptional folic acid use. Am J Med Genet A 152A: 2756-2761.
33. Marx H. 1926. Die Missbildungen des ohres. In: Denker A KO, editor. Handbuch der Spez Path Anatomie Histologie Berlin, Germany: Springer. p 131.
34. Mastroiacovo P, Corchia C, Botto LD, et al. 1995. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet 32: 453-457.
35. Monks DC, Jahangir A, Shanske AL, et al. 2010. Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia. Int J Pediatr Otorhinolaryngol 74: 878-882.
36. Nazer J, Lay-Son G, Cifuentes L. 2006. Prevalence of microtia and anotia at the maternity of the University of Chile Clinical Hospital. Rev Med Chil 134: 1295-1301.
37. Nelson SM, Berry RI. 1984. Ear disease and hearing loss among Navajo children - a mass survey. Laryngoscope 94: 316-323.
38. Okajima H, Takeichi Y, Umeda K, et al. 1996. Clinical analysis of 592 patients with microtia. Acta Otolaryngol Suppl 525: 18-24.
39. Osorno G. 2007. A 20-year experience with the Brent technique of auricular reconstruction: pearls and pitfalls. Plast Reconstr Surg 119: 1447-1463.
40. Population-based Birth Defects Surveillance data from selected states, 2002-2006. 2009. Birth Defects Res A Clin Mol Teratol 85: 939-1055.
41. Shaw GM, Carmichael SL, Kaidarova Z, et al. 2004. Epidemiologic characteristics of anotia and microtia in California, 1989-1997. Birth Defects Res A Clin Mol Teratol 70: 472-475.
42. Strisciuglio P, Ballabio A, Parenti G. 1986. Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship. J Med Genet 23: 459-460.
43. Suutarla S, Rautio J, Ritvanen A, et al. 2007. Microtia in Finland: comparison of characteristics in different populations. Int J Pediatr Otorhinolaryngol 71: 1211-1217.
44. Tollefson TT. 2006. Advances in the treatment of microtia. Curr Opin Otolaryngol Head Neck Surg 14: 412-422.
45. Yang J, Carmichael SL, Kaidarova Z, et al. 2004. Risks of selected congenital malformations among offspring of mixed race-ethnicity. Birth Defects Res A Clin Mol Teratol 70: 820-824.
46. Zhang QG, Zhang J, Yu P, et al. 2009. Environmental and genetic factors associated with congenital microtia: a case-control study in Jiangsu, China, 2004 to 2007. Plastic and Reconstructive Surgery 124: 1157-1164.