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Volumn 158 A, Issue 1, 2012, Pages 124-139

Microtia: Epidemiology and genetics

Author keywords

Anotia; Craniofacial development; Craniofacial microsomia; Hemifacial microsomia; Microtia; OAVS (oculo auriculo vertebral spectrum)

Indexed keywords

AMERICAN INDIAN; ANDEAN; ASIAN; BIRTH DEFECT; CHUK GENE; CRANIOFACIAL DEVELOPMENT; DISEASE ASSOCIATION; DISEASE SEVERITY; EAR RECONSTRUCTION; ENVIRONMENTAL FACTOR; ETHNIC GROUP; GENE; GENETIC ANALYSIS; HEARING IMPAIRMENT; HEARING LOSS; HEREDITY; HISPANIC; HOX GENE; HUMAN; IRF6 GENE; MICROTIA; NEURAL CREST CELL; NONHUMAN; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL; REVIEW; RISK FACTOR; SIGNAL TRANSDUCTION; TBX1 GENE;

EID: 84355166480     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34352     Document Type: Review
Times cited : (301)

References (141)
  • 1
    • 0017727924 scopus 로고
    • Microtia in New Mexico: Evidence for multifactorial causation
    • Aase JM, Tegtmeier RE. 1977. Microtia in New Mexico: Evidence for multifactorial causation. Birth Defects Orig Artic Ser 13: 113-116.
    • (1977) Birth Defects Orig Artic Ser , vol.13 , pp. 113-116
    • Aase, J.M.1    Tegtmeier, R.E.2
  • 3
    • 0036800025 scopus 로고    scopus 로고
    • Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse
    • Abu-Issa R, Smyth G, Smoak I, Yamamura K, Meyers EN. 2002. Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse. Development 129: 4613-4625.
    • (2002) Development , vol.129 , pp. 4613-4625
    • Abu-Issa, R.1    Smyth, G.2    Smoak, I.3    Yamamura, K.4    Meyers, E.N.5
  • 5
    • 67449111228 scopus 로고    scopus 로고
    • Genetics of microtia and associated syndromes
    • Alasti F, Van Camp G. 2009. Genetics of microtia and associated syndromes. J Med Genet 46: 361-369.
    • (2009) J Med Genet , vol.46 , pp. 361-369
    • Alasti, F.1    Van Camp, G.2
  • 6
    • 66349089572 scopus 로고    scopus 로고
    • Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature
    • Anderka MT, Lin AE, Abuelo DN, Mitchell AA, Rasmussen SA. 2009. Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature. Am J Med Genet Part A 149A: 1241-1248.
    • (2009) Am J Med Genet Part A , vol.149 , pp. 1241-1248
    • Anderka, M.T.1    Lin, A.E.2    Abuelo, D.N.3    Mitchell, A.A.4    Rasmussen, S.A.5
  • 7
    • 33745197499 scopus 로고    scopus 로고
    • Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients
    • Arnold JS, Braunstein EM, Ohyama T, Groves AK, Adams JC, Brown MC, Morrow BE. 2006. Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients. Hum Mol Genet 15: 1629-1639.
    • (2006) Hum Mol Genet , vol.15 , pp. 1629-1639
    • Arnold, J.S.1    Braunstein, E.M.2    Ohyama, T.3    Groves, A.K.4    Adams, J.C.5    Brown, M.C.6    Morrow, B.E.7
  • 9
    • 0016134555 scopus 로고
    • Familial microtia with meatal atresia in father and son
    • Balci S. 1974. Familial microtia with meatal atresia in father and son. Turk J Pediatr 16: 140-143.
    • (1974) Turk J Pediatr , vol.16 , pp. 140-143
    • Balci, S.1
  • 10
    • 0035178288 scopus 로고    scopus 로고
    • Familial microtia in four generations with variable expressivity and incomplete penetrance in association with type I syndactyly
    • Balci S, Boduroglu 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.
    • (2001) Turk J Pediatr , vol.43 , pp. 362-365
    • Balci, S.1    Boduroglu, K.2    Kaya, S.3
  • 11
    • 0024353975 scopus 로고
    • Craniofacial abnormalities induced by ectopic expression of the homeobox gene Hox-1.1 in transgenic mice
    • Balling R, Mutter G, Gruss P, Kessel M. 1989. Craniofacial abnormalities induced by ectopic expression of the homeobox gene Hox-1.1 in transgenic mice. Cell 58: 337-347.
    • (1989) Cell , vol.58 , pp. 337-347
    • Balling, R.1    Mutter, G.2    Gruss, P.3    Kessel, M.4
  • 12
    • 0024365875 scopus 로고
    • The association of facial palsy and/or sensorineural hearing loss in patients with hemifacial microsomia
    • Bassila MK, Goldberg R. 1989. The association of facial palsy and/or sensorineural hearing loss in patients with hemifacial microsomia. Cleft Palate J 26: 287-291.
    • (1989) Cleft Palate J , vol.26 , pp. 287-291
    • Bassila, M.K.1    Goldberg, R.2
  • 13
    • 52249103492 scopus 로고    scopus 로고
    • Evidence that parent-of-origin affects birth-weight reductions at high altitude
    • Bennett A, Sain SR, Vargas E, Moore LG. 2008. Evidence that parent-of-origin affects birth-weight reductions at high altitude. Am J Hum Biol 20: 592-597.
    • (2008) Am J Hum Biol , vol.20 , pp. 592-597
    • Bennett, A.1    Sain, S.R.2    Vargas, E.3    Moore, L.G.4
  • 14
    • 12344249105 scopus 로고    scopus 로고
    • Six1 promotes a placodal fate within the lateral neurogenic ectoderm by functioning as both a transcriptional activator and repressor
    • Brugmann SA, Pandur PD, Kenyon KL, Pignoni F, Moody SA. 2004. Six1 promotes a placodal fate within the lateral neurogenic ectoderm by functioning as both a transcriptional activator and repressor. Development 131: 5871-5881.
    • (2004) Development , vol.131 , pp. 5871-5881
    • Brugmann, S.A.1    Pandur, P.D.2    Kenyon, K.L.3    Pignoni, F.4    Moody, S.A.5
  • 15
    • 0033387482 scopus 로고    scopus 로고
    • Clinical and radiological evaluation in children with microtia
    • Calzolari F, Garani G, Sensi A, Martini A. 1999. Clinical and radiological evaluation in children with microtia. Br J Audiol 33: 303-312.
    • (1999) Br J Audiol , vol.33 , pp. 303-312
    • Calzolari, F.1    Garani, G.2    Sensi, A.3    Martini, A.4
  • 19
    • 0022993190 scopus 로고
    • Prevalence rates of microtia in South America
    • Castilla EE, Orioli IM. 1986. Prevalence rates of microtia in South America. Int J Epidemiol 15: 364-368.
    • (1986) Int J Epidemiol , vol.15 , pp. 364-368
    • Castilla, E.E.1    Orioli, I.M.2
  • 21
    • 70449518282 scopus 로고    scopus 로고
    • Activation of Six1 target genes is required for sensory placode formation
    • Christophorou NA, Bailey AP, Hanson S, Streit A. 2009. Activation of Six1 target genes is required for sensory placode formation. Dev Biol 336: 327-336.
    • (2009) Dev Biol , vol.336 , pp. 327-336
    • Christophorou, N.A.1    Bailey, A.P.2    Hanson, S.3    Streit, A.4
  • 22
    • 23744460166 scopus 로고    scopus 로고
    • The influence of high-altitude living on body iron
    • Cook JD, Boy E, Flowers C, Daroca Mdel C. 2005. The influence of high-altitude living on body iron. Blood 106: 1441-1446.
    • (2005) Blood , vol.106 , pp. 1441-1446
    • Cook, J.D.1    Boy, E.2    Flowers, C.3    Daroca Mdel, C.4
  • 25
    • 33749628855 scopus 로고    scopus 로고
    • Prenatal exposure to misoprostol and congenital anomalies: Systematic review and meta-analysis
    • da Silva Dal Pizzol T, Knop FP, Mengue SS. 2006. Prenatal exposure to misoprostol and congenital anomalies: Systematic review and meta-analysis. Reprod Toxicol 22: 666-671.
    • (2006) Reprod Toxicol , vol.22 , pp. 666-671
    • da Silva Dal Pizzol, T.1    Knop, F.P.2    Mengue, S.S.3
  • 28
    • 34247503218 scopus 로고    scopus 로고
    • Psychological status of congenital microtia patients and relative influential factors: Analysis of 410 cases
    • Du JM, Zhuang HX, Chai JK, Liu GF, Wang Y, Guo WH. 2007. Psychological status of congenital microtia patients and relative influential factors: Analysis of 410 cases. Zhonghua Yi Xue Za Zhi 87: 383-387.
    • (2007) Zhonghua Yi Xue Za Zhi , vol.87 , pp. 383-387
    • Du, J.M.1    Zhuang, H.X.2    Chai, J.K.3    Liu, G.F.4    Wang, Y.5    Guo, W.H.6
  • 29
    • 0014399820 scopus 로고
    • Familial microtia with meatal atresia in two sibships
    • Ellwood LC, Winter ST, Dar H. 1968. Familial microtia with meatal atresia in two sibships. J Med Genet 5: 289-291.
    • (1968) J Med Genet , vol.5 , pp. 289-291
    • Ellwood, L.C.1    Winter, S.T.2    Dar, H.3
  • 30
    • 78650680241 scopus 로고    scopus 로고
    • Neural crest formation and craniofacial development
    • In: Epstein CJ, Erickson RP, Wynshaw-Boris AJ, editors, 2nd edition. Oxford, New York: Oxford University Press.
    • Engleka KA, Lang D, Brown CB, Antonucci NB, Epstein JA. 2008. Neural crest formation and craniofacial development. In: Epstein CJ, Erickson RP, Wynshaw-Boris AJ, editors. Inborn errors of development, 2nd edition. Oxford, New York: Oxford University Press. pp. 69-78.
    • (2008) Inborn errors of development , pp. 69-78
    • Engleka, K.A.1    Lang, D.2    Brown, C.B.3    Antonucci, N.B.4    Epstein, J.A.5
  • 32
    • 31144477512 scopus 로고    scopus 로고
    • Descriptive epidemiology of anotia and microtia, Hawaii, 1986-2002
    • Forrester MB, Merz RD. 2005. Descriptive epidemiology of anotia and microtia, Hawaii, 1986-2002. Congenit Anom (Kyoto) 45: 119-124.
    • (2005) Congenit Anom (Kyoto) , vol.45 , pp. 119-124
    • Forrester, M.B.1    Merz, R.D.2
  • 33
    • 0031894362 scopus 로고    scopus 로고
    • Hoxa1 and Hoxb1 synergize in patterning the hindbrain, cranial nerves and second pharyngeal arch
    • Gavalas A, Studer M, Lumsden A, Rijli FM, Krumlauf R, Chambon P. 1998. Hoxa1 and Hoxb1 synergize in patterning the hindbrain, cranial nerves and second pharyngeal arch. Development 125: 1123-1136.
    • (1998) Development , vol.125 , pp. 1123-1136
    • Gavalas, A.1    Studer, M.2    Lumsden, A.3    Rijli, F.M.4    Krumlauf, R.5    Chambon, P.6
  • 34
    • 0027759447 scopus 로고
    • Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest
    • Gendronmaguire M, Mallo M, Zhang M, Gridley T. 1993. Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest. Cell 75: 1317-1331.
    • (1993) Cell , vol.75 , pp. 1317-1331
    • Gendronmaguire, M.1    Mallo, M.2    Zhang, M.3    Gridley, T.4
  • 40
    • 66349096902 scopus 로고    scopus 로고
    • Phenotypic variability in trisomy 13 mosaicism: Two new patients and literature review
    • Griffith CB, Vance GH, Weaver DD. 2009. Phenotypic variability in trisomy 13 mosaicism: Two new patients and literature review. Am J Med Genet Part A 149A: 1346-1358.
    • (2009) Am J Med Genet Part A , vol.149 , pp. 1346-1358
    • Griffith, C.B.1    Vance, G.H.2    Weaver, D.D.3
  • 42
    • 0028885785 scopus 로고
    • Familial microtia with meatal atresia and conductive deafness in five generations
    • Gupta A, Patton MA. 1995. Familial microtia with meatal atresia and conductive deafness in five generations. Am J Med Genet 59: 238-241.
    • (1995) Am J Med Genet , vol.59 , pp. 238-241
    • Gupta, A.1    Patton, M.A.2
  • 43
    • 0036787835 scopus 로고    scopus 로고
    • Misregulation of gene expression in the redox-sensitive NF-kappab-dependent limb outgrowth pathway by thalidomide
    • Hansen JM, Gong SG, Philbert M, Harris C. 2002. Misregulation of gene expression in the redox-sensitive NF-kappab-dependent limb outgrowth pathway by thalidomide. Dev Dyn 225: 186-194.
    • (2002) Dev Dyn , vol.225 , pp. 186-194
    • Hansen, J.M.1    Gong, S.G.2    Philbert, M.3    Harris, C.4
  • 44
    • 0029969832 scopus 로고    scopus 로고
    • The epidemiology of anotia and microtia
    • Harris J, Kallen B, Robert E. 1996. The epidemiology of anotia and microtia. J Med Genet 33: 809-813.
    • (1996) J Med Genet , vol.33 , pp. 809-813
    • Harris, J.1    Kallen, B.2    Robert, E.3
  • 45
    • 84857440288 scopus 로고    scopus 로고
    • Craniofacial microsomia overview
    • In: Pagon RABT, Dolan CR, Stephens K, editors. Seattle: University of Washington.
    • Heike CL, Hing AV. 2009. Craniofacial microsomia overview. In: Pagon RABT, Dolan CR, Stephens K, editors. GeneReviews, 2010/03/20 edition. Seattle: University of Washington.
    • (2009) GeneReviews, 2010/03/20 edition
    • Heike, C.L.1    Hing, A.V.2
  • 47
    • 57849118891 scopus 로고    scopus 로고
    • Unique organization of the frontonasal ectodermal zone in birds and mammals
    • Hu D, Marcucio RS. 2009. Unique organization of the frontonasal ectodermal zone in birds and mammals. Dev Biol 325: 200-210.
    • (2009) Dev Biol , vol.325 , pp. 200-210
    • Hu, D.1    Marcucio, R.S.2
  • 48
    • 0033537767 scopus 로고    scopus 로고
    • Abnormal morphogenesis but intact IKK activation in mice lacking the IKKalpha subunit of IkappaB kinase
    • Hu Y, Baud V, Delhase M, Zhang P, Deerinck T, Ellisman M, Johnson R, Karin M. 1999. Abnormal morphogenesis but intact IKK activation in mice lacking the IKKalpha subunit of IkappaB kinase. Science 284: 316-320.
    • (1999) Science , vol.284 , pp. 316-320
    • Hu, Y.1    Baud, V.2    Delhase, M.3    Zhang, P.4    Deerinck, T.5    Ellisman, M.6    Johnson, R.7    Karin, M.8
  • 50
    • 70349501424 scopus 로고    scopus 로고
    • Detailed assessment of the ear in Cornelia de Lange syndrome: Comparison with a control sample using the new dysmorphology guidelines
    • Hunter AG, Collins JS, Deardorff MA, Krantz ID. 2009b. Detailed assessment of the ear in Cornelia de Lange syndrome: Comparison with a control sample using the new dysmorphology guidelines. Am J Med Genet Part A 149A: 2181-2192.
    • (2009) Am J Med Genet Part A , vol.149 , pp. 2181-2192
    • Hunter, A.G.1    Collins, J.S.2    Deardorff, M.A.3    Krantz, I.D.4
  • 51
    • 46449115895 scopus 로고    scopus 로고
    • Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996-2002
    • Husain T, Langlois PH, Sever LE, Gambello MJ. 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.
    • (2008) Birth Defects Res A Clin Mol Teratol , vol.82 , pp. 435-440
    • Husain, T.1    Langlois, P.H.2    Sever, L.E.3    Gambello, M.J.4
  • 53
    • 33947115533 scopus 로고    scopus 로고
    • Hearing levels in patients with microtia: Correlation with temporal bone malformation
    • Ishimoto S, Ito K, Karino S, Takegoshi H, Kaga K, Yamasoba T. 2007. Hearing levels in patients with microtia: Correlation with temporal bone malformation. Laryngoscope 117: 461-465.
    • (2007) Laryngoscope , vol.117 , pp. 461-465
    • Ishimoto, S.1    Ito, K.2    Karino, S.3    Takegoshi, H.4    Kaga, K.5    Yamasoba, T.6
  • 55
    • 0014619764 scopus 로고
    • Incidence of ear diseases in Navajo Indians
    • Jaffe BF. 1969. Incidence of ear diseases in Navajo Indians. Laryngoscope 79: 2126-2134.
    • (1969) Laryngoscope , vol.79 , pp. 2126-2134
    • Jaffe, B.F.1
  • 56
    • 0029554573 scopus 로고
    • Prenatal craniofacial development: New insights on normal and abnormal mechanisms
    • Johnston MC, Bronsky PT. 1995. Prenatal craniofacial development: New insights on normal and abnormal mechanisms. Crit Rev Oral Biol Med 6: 368-422.
    • (1995) Crit Rev Oral Biol Med , vol.6 , pp. 368-422
    • Johnston, M.C.1    Bronsky, P.T.2
  • 61
    • 0033924215 scopus 로고    scopus 로고
    • Six family genes-structure and function as transcription factors and their roles in development
    • Kawakami K, Sato S, Ozaki H, Ikeda K. 2000. Six family genes-structure and function as transcription factors and their roles in development. Bioessays 22: 616-626.
    • (2000) Bioessays , vol.22 , pp. 616-626
    • Kawakami, K.1    Sato, S.2    Ozaki, H.3    Ikeda, K.4
  • 63
    • 0026440993 scopus 로고
    • The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGF beta superfamily
    • Kingsley DM, Bland AE, Grubber JM, Marker PC, Russell LB, Copeland NG, Jenkins NA. 1992. The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGF beta superfamily. Cell 71: 399-410.
    • (1992) Cell , vol.71 , pp. 399-410
    • Kingsley, D.M.1    Bland, A.E.2    Grubber, J.M.3    Marker, P.C.4    Russell, L.B.5    Copeland, N.G.6    Jenkins, N.A.7
  • 66
    • 0038115063 scopus 로고    scopus 로고
    • Organizing axes in time and space; 25 years of colinear tinkering
    • Kmita M, Duboule D. 2003. Organizing axes in time and space; 25 years of colinear tinkering. Science 301: 331-333.
    • (2003) Science , vol.301 , pp. 331-333
    • Kmita, M.1    Duboule, D.2
  • 67
    • 84934437775 scopus 로고    scopus 로고
    • Cranial neural crest and development of the head skeleton
    • Knight RD, Schilling TF. 2006. Cranial neural crest and development of the head skeleton. Adv Exp Med Biol 589: 120-133.
    • (2006) Adv Exp Med Biol , vol.589 , pp. 120-133
    • Knight, R.D.1    Schilling, T.F.2
  • 68
    • 34247607671 scopus 로고    scopus 로고
    • Thalidomide induces limb deformities by perturbing the Bmp/Dkk1/Wnt signaling pathway
    • Knobloch J, Shaughnessy JD Jr, Ruther U. 2007. Thalidomide induces limb deformities by perturbing the Bmp/Dkk1/Wnt signaling pathway. FASEB J 21: 1410-1421.
    • (2007) FASEB J , vol.21 , pp. 1410-1421
    • Knobloch, J.1    Shaughnessy Jr, J.D.2    Ruther, U.3
  • 69
    • 0015383699 scopus 로고
    • Recessive microtia, meatal atresia, and hearing loss. Report of a sibship
    • Konigsmark BW, Nager GT, Haskins HL. 1972. Recessive microtia, meatal atresia, and hearing loss. Report of a sibship. Arch Otolaryngol 96: 105-109.
    • (1972) Arch Otolaryngol , vol.96 , pp. 105-109
    • Konigsmark, B.W.1    Nager, G.T.2    Haskins, H.L.3
  • 70
    • 0000203969 scopus 로고    scopus 로고
    • Branchio-oto-renal syndrome: Identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing
    • Kumar S, Deffenbacher K, Cremers CW, Van Camp G, Kimberling WJ. 1997. Branchio-oto-renal syndrome: Identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. Genet Test 1: 243-251.
    • (1997) Genet Test , vol.1 , pp. 243-251
    • Kumar, S.1    Deffenbacher, K.2    Cremers, C.W.3    Van Camp, G.4    Kimberling, W.J.5
  • 71
    • 0038016516 scopus 로고    scopus 로고
    • Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice
    • Laclef C, Souil E, Demignon J, Maire P. 2003. Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. Mech Dev 120: 669-679.
    • (2003) Mech Dev , vol.120 , pp. 669-679
    • Laclef, C.1    Souil, E.2    Demignon, J.3    Maire, P.4
  • 74
    • 77956129470 scopus 로고    scopus 로고
    • A prenatally recognizable malformation syndrome associated with a recurrent post-zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21)
    • Li C. 2010. A prenatally recognizable malformation syndrome associated with a recurrent post-zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21). Am J Med Genet Part A 152A: 2339-2341.
    • (2010) Am J Med Genet Part A , vol.152 , pp. 2339-2341
    • Li, C.1
  • 75
    • 77957749418 scopus 로고    scopus 로고
    • Psychosocial outcomes among microtia patients of different ages and genders before ear reconstruction
    • Li D, Chin W, Wu J, Zhang Q, Xu F, Xu Z, Zhang R. 2010. Psychosocial outcomes among microtia patients of different ages and genders before ear reconstruction. Aesthetic Plast Surg 34: 570-576.
    • (2010) Aesthetic Plast Surg , vol.34 , pp. 570-576
    • Li, D.1    Chin, W.2    Wu, J.3    Zhang, Q.4    Xu, F.5    Xu, Z.6    Zhang, R.7
  • 80
    • 0642349268 scopus 로고    scopus 로고
    • Formation of the outer and middle ear, molecular mechanisms
    • Mallo M. 2003. Formation of the outer and middle ear, molecular mechanisms. Curr Top Dev Biol 57: 85-113.
    • (2003) Curr Top Dev Biol , vol.57 , pp. 85-113
    • Mallo, M.1
  • 81
    • 0031024091 scopus 로고    scopus 로고
    • Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice
    • Marker PC, Seung K, Bland AE, Russell LB, Kingsley DM. 1997. Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice. Genetics 145: 435-443.
    • (1997) Genetics , vol.145 , pp. 435-443
    • Marker, P.C.1    Seung, K.2    Bland, A.E.3    Russell, L.B.4    Kingsley, D.M.5
  • 82
    • 0029026227 scopus 로고
    • The paired-like homeo box gene MHox is required for early events of skeletogenesis in multiple lineages
    • Martin JF, Bradley A, Olson EN. 1995. The paired-like homeo box gene MHox is required for early events of skeletogenesis in multiple lineages. Genes Dev 9: 1237-1249.
    • (1995) Genes Dev , vol.9 , pp. 1237-1249
    • Martin, J.F.1    Bradley, A.2    Olson, E.N.3
  • 83
    • 0002653292 scopus 로고
    • Die Missbildungen des ohres
    • In: Denker A, Kahler O, editor. Berlin, Germany: Springer.
    • Marx H. 1926. Die Missbildungen des ohres. In: Denker A, Kahler O, editor. Handbuch der Spez Path Anatomie Histologie. Berlin, Germany: Springer. pp. 131.
    • (1926) Handbuch der Spez Path Anatomie Histologie , pp. 131
    • Marx, H.1
  • 84
    • 0029056656 scopus 로고
    • Epidemiology and genetics of microtia-anotia: A registry based study on over one million births
    • Mastroiacovo P, Corchia C, Botto LD, Lanni R, Zampino G, Fusco D. 1995. Epidemiology and genetics of microtia-anotia: A registry based study on over one million births. J Med Genet 32: 453-457.
    • (1995) J Med Genet , vol.32 , pp. 453-457
    • Mastroiacovo, P.1    Corchia, C.2    Botto, L.D.3    Lanni, R.4    Zampino, G.5    Fusco, D.6
  • 85
    • 67349179645 scopus 로고    scopus 로고
    • Tetrada of the possible mycophenolate mofetil embryopathy: A review
    • Merlob P, Stahl B, Klinger G. 2009. Tetrada of the possible mycophenolate mofetil embryopathy: A review. Reprod Toxicol 28: 105-108.
    • (2009) Reprod Toxicol , vol.28 , pp. 105-108
    • Merlob, P.1    Stahl, B.2    Klinger, G.3
  • 87
    • 84879141360 scopus 로고    scopus 로고
    • Mouse Genome Database (MGD). Mouse Genome Informatics website. In: Laboratory TJ, editor. Bar Harbor, Maine: World Wide Web. Available at:
    • Mouse Genome Database (MGD). Mouse Genome Informatics website. In: Laboratory TJ, editor. Bar Harbor, Maine: World Wide Web. Available at:
  • 88
    • 0028152927 scopus 로고
    • Transgenic mouse model of hemifacial microsomia: Cloning and characterization of insertional mutation region on chromosome 10
    • Naora H, Kimura M, Otani H, Yokoyama M, Koizumi T, Katsuki M, Tanaka O. 1994. Transgenic mouse model of hemifacial microsomia: Cloning and characterization of insertional mutation region on chromosome 10. Genomics 23: 515-519.
    • (1994) Genomics , vol.23 , pp. 515-519
    • Naora, H.1    Kimura, M.2    Otani, H.3    Yokoyama, M.4    Koizumi, T.5    Katsuki, M.6    Tanaka, O.7
  • 89
    • 33845809112 scopus 로고    scopus 로고
    • Prevalence of microtia and anotia at the maternity of the University of Chile Clinical Hospital
    • 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.
    • (2006) Rev Med Chil , vol.134 , pp. 1295-1301
    • Nazer, J.1    Lay-Son, G.2    Cifuentes, L.3
  • 90
    • 0021340675 scopus 로고
    • Ear disease and hearing loss among Navajo children-a mass survey
    • Nelson SM, Berry RI. 1984. Ear disease and hearing loss among Navajo children-a mass survey. Laryngoscope 94: 316-323.
    • (1984) Laryngoscope , vol.94 , pp. 316-323
    • Nelson, S.M.1    Berry, R.I.2
  • 93
    • 0028786160 scopus 로고
    • Arterial oxygen saturation in Tibetan and Han infants born in Lhasa, Tibet
    • Niermeyer S, Yang P, Shanmina, Drolkar, Zhuang J, Moore LG. 1995. Arterial oxygen saturation in Tibetan and Han infants born in Lhasa, Tibet. N Engl J Med 333: 1248-1252.
    • (1995) N Engl J Med , vol.333 , pp. 1248-1252
    • Niermeyer, S.1    Yang, P.2    Shanmina3    Drolkar4    Zhuang, J.5    Moore, L.G.6
  • 94
    • 28444476207 scopus 로고    scopus 로고
    • Relations and interactions between cranial mesoderm and neural crest populations
    • Noden DM, Trainor PA. 2005. Relations and interactions between cranial mesoderm and neural crest populations. J Anat 207: 575-601.
    • (2005) J Anat , vol.207 , pp. 575-601
    • Noden, D.M.1    Trainor, P.A.2
  • 96
    • 0012266719 scopus 로고    scopus 로고
    • Epidemiological assessment of misoprostol teratogenicity
    • Orioli IM, Castilla EE. 2000. Epidemiological assessment of misoprostol teratogenicity. BJOG 107: 519-523.
    • (2000) BJOG , vol.107 , pp. 519-523
    • Orioli, I.M.1    Castilla, E.E.2
  • 97
    • 0025289984 scopus 로고
    • Right-sided microtia and conductive hearing loss with variable expressivity in three generations
    • Orstavik KH, Medbo S, Mair IW. 1990. Right-sided microtia and conductive hearing loss with variable expressivity in three generations. Clin Genet 38: 117-120.
    • (1990) Clin Genet , vol.38 , pp. 117-120
    • Orstavik, K.H.1    Medbo, S.2    Mair, I.W.3
  • 98
    • 0026078212 scopus 로고
    • Microtia as an autosomal dominant mutation in a transgenic mouse line: A possible animal model of branchial arch anomalies
    • Otani H, Tanaka O, Naora H, Yokoyama M, Nomura T, Kimura M, Katsuki M. 1991. Microtia as an autosomal dominant mutation in a transgenic mouse line: A possible animal model of branchial arch anomalies. Anat Anz 172: 1-9.
    • (1991) Anat Anz , vol.172 , pp. 1-9
    • Otani, H.1    Tanaka, O.2    Naora, H.3    Yokoyama, M.4    Nomura, T.5    Kimura, M.6    Katsuki, M.7
  • 99
    • 0032920883 scopus 로고    scopus 로고
    • Free radical-mediated oxidative DNA damage in the mechanism of thalidomide teratogenicity
    • Parman T, Wiley MJ, Wells PG. 1999. Free radical-mediated oxidative DNA damage in the mechanism of thalidomide teratogenicity. Nat Med 5: 582-585.
    • (1999) Nat Med , vol.5 , pp. 582-585
    • Parman, T.1    Wiley, M.J.2    Wells, P.G.3
  • 100
    • 0032146074 scopus 로고    scopus 로고
    • Opposite phenotypes of hypomorphic and Y766 phosphorylation site mutations reveal a function for Fgfr1 in anteroposterior patterning of mouse embryos
    • Partanen J, Schwartz L, Rossant J. 1998. Opposite phenotypes of hypomorphic and Y766 phosphorylation site mutations reveal a function for Fgfr1 in anteroposterior patterning of mouse embryos. Genes Dev 12: 2332-2344.
    • (1998) Genes Dev , vol.12 , pp. 2332-2344
    • Partanen, J.1    Schwartz, L.2    Rossant, J.3
  • 104
    • 0015593387 scopus 로고
    • The pathogenesis of the first and second branchial arch syndrome
    • Poswillo D. 1973. The pathogenesis of the first and second branchial arch syndrome. Oral Surg Oral Med Oral Pathol 35: 302-328.
    • (1973) Oral Surg Oral Med Oral Pathol , vol.35 , pp. 302-328
    • Poswillo, D.1
  • 105
    • 0016708428 scopus 로고
    • Hemorrhage in development of the face
    • Poswillo D. 1975. Hemorrhage in development of the face. Birth Defects Orig Artic Ser 11: 61-81.
    • (1975) Birth Defects Orig Artic Ser , vol.11 , pp. 61-81
    • Poswillo, D.1
  • 106
    • 1642435602 scopus 로고    scopus 로고
    • Branchio-oto-renal syndrome
    • Rodriguez Soriano J. 2003. Branchio-oto-renal syndrome. J Nephrol 16: 603-605.
    • (2003) J Nephrol , vol.16 , pp. 603-605
    • Rodriguez Soriano, J.1
  • 107
    • 0345444214 scopus 로고
    • In: Tanzer R, Edgerton M, editors. Symposium on reconstruction of the auricle, St. Louis: CV Mosby;
    • Rogers B. Anatomy, embryology, and classification of auricular deformities. In: Tanzer R, Edgerton M, editors. Symposium on reconstruction of the auricle, Vol. 10. St. Louis: CV Mosby; 1974. p. 3-11.
    • (1974) Anatomy, embryology, and classification of auricular deformities , vol.10 , pp. 3-11
    • Rogers, B.1
  • 108
    • 0020631024 scopus 로고
    • Hemifacial microsomia and variants: Pedigree data
    • Rollnick BR, Kaye CI. 1983. Hemifacial microsomia and variants: Pedigree data. Am J Med Genet 15: 233-253.
    • (1983) Am J Med Genet , vol.15 , pp. 233-253
    • Rollnick, B.R.1    Kaye, C.I.2
  • 109
    • 0014990408 scopus 로고
    • Definition of functional units in a small chromosomal segment of the mouse and its use in interpreting the nature of radiation-induced mutations
    • Russell LB. 1971. Definition of functional units in a small chromosomal segment of the mouse and its use in interpreting the nature of radiation-induced mutations. Mutat Res 11: 107-123.
    • (1971) Mutat Res , vol.11 , pp. 107-123
    • Russell, L.B.1
  • 111
    • 78349260840 scopus 로고    scopus 로고
    • Examining the evidence for vascular pathogenesis of selected birth defects
    • Sadler TW, Rasmussen SA. 2010. Examining the evidence for vascular pathogenesis of selected birth defects. Am J Med Genet Part A 152A: 2426-2436.
    • (2010) Am J Med Genet Part A , vol.152 , pp. 2426-2436
    • Sadler, T.W.1    Rasmussen, S.A.2
  • 112
    • 25644452090 scopus 로고    scopus 로고
    • Complete trisomy 1q with mosaic Y;1 translocation: A recurrent aneuploidy presenting diagnostic dilemmas
    • Scheuerle A, Heller K, Elder F. 2005. Complete trisomy 1q with mosaic Y;1 translocation: A recurrent aneuploidy presenting diagnostic dilemmas. Am J Med Genet Part A 138A: 166-170.
    • (2005) Am J Med Genet Part A , vol.138 , pp. 166-170
    • Scheuerle, A.1    Heller, K.2    Elder, F.3
  • 114
    • 0022214609 scopus 로고
    • Familial microtia, meatal atresia, and conductive deafness in three siblings
    • Schmid M, Schroder M, Langenbeck U. 1985. Familial microtia, meatal atresia, and conductive deafness in three siblings. Am J Med Genet 22: 327-332.
    • (1985) Am J Med Genet , vol.22 , pp. 327-332
    • Schmid, M.1    Schroder, M.2    Langenbeck, U.3
  • 115
    • 77955371833 scopus 로고    scopus 로고
    • Development of the ears and eyes
    • In: Livingstone/Elsevier C, editor. Philadelphia: Churchill Livingstone/Elsevier.
    • Schoenwolf GC, Larsen WJ. 2009a. Development of the ears and eyes. In: Livingstone/Elsevier C, editor. Larsen's human embryology. Philadelphia: Churchill Livingstone/Elsevier.
    • (2009) Larsen's human embryology
    • Schoenwolf, G.C.1    Larsen, W.J.2
  • 116
    • 77955371833 scopus 로고    scopus 로고
    • Development of the pharyngeal apparatus and face
    • In: Livingstone/Elsevier C, editor. Philadelphia: Churchill Livingstone/Elsevier.
    • Schoenwolf GC Larsen WJ 2009b Development of the pharyngeal apparatus and face. In: Livingstone/Elsevier C, editor. Larsen's Human Embryology. Philadelphia: Churchill Livingstone/Elsevier.
    • (2009) Larsen's Human Embryology
    • Schoenwolf, G.C.1    Larsen, W.J.2
  • 118
    • 77956344639 scopus 로고    scopus 로고
    • A prospective evaluation of psychosocial outcomes following ear reconstruction with rib cartilage in microtia
    • Steffen A, Wollenberg B, Konig IR, Frenzel H., 2010. A prospective evaluation of psychosocial outcomes following ear reconstruction with rib cartilage in microtia. J Plast Reconstr Aesthet Surg 63: 1466-1473.
    • (2010) J Plast Reconstr Aesthet Surg , vol.63 , pp. 1466-1473
    • Steffen, A.1    Wollenberg, B.2    Konig, I.R.3    Frenzel, H.4
  • 121
    • 0022898993 scopus 로고
    • Microtia with meatal atresia and conductive deafness: Mild and severe manifestations within the same sibship
    • 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.
    • (1986) J Med Genet , vol.23 , pp. 459-460
    • Strisciuglio, P.1    Ballabio, A.2    Parenti, G.3
  • 125
    • 23844445146 scopus 로고    scopus 로고
    • Tissue morphogenesis and vascular stability require the Frem2 protein, product of the mouse myelencephalic blebs gene
    • Timmer JR, Mak TW, Manova K, Anderson KV, Niswander L. 2005. Tissue morphogenesis and vascular stability require the Frem2 protein, product of the mouse myelencephalic blebs gene. Proc Natl Acad Sci USA 102: 11746-11750.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 11746-11750
    • Timmer, J.R.1    Mak, T.W.2    Manova, K.3    Anderson, K.V.4    Niswander, L.5
  • 126
    • 78649662342 scopus 로고    scopus 로고
    • Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention
    • Trainor PA. 2010. Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. Am J Med Genet Part A 152A: 2984-2994.
    • (2010) Am J Med Genet Part A , vol.152 , pp. 2984-2994
    • Trainor, P.A.1
  • 130
    • 0024216504 scopus 로고
    • Classification of congenital deformities of the auricle
    • Weerda H. 1988. Classification of congenital deformities of the auricle. Facial Plast Surg 5: 385-388.
    • (1988) Facial Plast Surg , vol.5 , pp. 385-388
    • Weerda, H.1
  • 131
    • 0042831024 scopus 로고    scopus 로고
    • Fgf3 and Fgf10 are required for mouse otic placode induction
    • Wright TJ, Mansour SL. 2003. Fgf3 and Fgf10 are required for mouse otic placode induction. Development 130: 3379-3390.
    • (2003) Development , vol.130 , pp. 3379-3390
    • Wright, T.J.1    Mansour, S.L.2
  • 133
    • 0032938813 scopus 로고    scopus 로고
    • A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo
    • Yamaguchi TP, Bradley A, McMahon AP, Jones S. 1999. A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo. Development 126: 1211-1223.
    • (1999) Development , vol.126 , pp. 1211-1223
    • Yamaguchi, T.P.1    Bradley, A.2    McMahon, A.P.3    Jones, S.4
  • 135
    • 79952198625 scopus 로고    scopus 로고
    • Understanding diabetic teratogenesis: Where are we now and where are we going?
    • Zabihi S, Loeken MR. 2010. Understanding diabetic teratogenesis: Where are we now and where are we going? Birth Defects Res A Clin Mol Teratol 88: 779-790.
    • (2010) Birth Defects Res A Clin Mol Teratol , vol.88 , pp. 779-790
    • Zabihi, S.1    Loeken, M.R.2
  • 136
    • 27944491209 scopus 로고    scopus 로고
    • Effects of chronic hypoxia in vivo on the expression of human placental glucose transporters
    • Zamudio S, Baumann MU, Illsley NP. 2006. Effects of chronic hypoxia in vivo on the expression of human placental glucose transporters. Placenta 27: 49-55.
    • (2006) Placenta , vol.27 , pp. 49-55
    • Zamudio, S.1    Baumann, M.U.2    Illsley, N.P.3
  • 137
    • 0018575133 scopus 로고
    • Inheritance of microtia and aural atresia in a family with five affected members
    • Zankl M, Zang KD. 1979. Inheritance of microtia and aural atresia in a family with five affected members. Clin Genet 16: 331-334.
    • (1979) Clin Genet , vol.16 , pp. 331-334
    • Zankl, M.1    Zang, K.D.2
  • 138
    • 0042825369 scopus 로고    scopus 로고
    • Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: A postzygotic error
    • Zeng S, Patil SR, Yankowitz J. 2003. Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: A postzygotic error. Am J Med Genet Part A 120A: 464-469.
    • (2003) Am J Med Genet Part A , vol.120 , pp. 464-469
    • Zeng, S.1    Patil, S.R.2    Yankowitz, J.3
  • 139
    • 77749315884 scopus 로고    scopus 로고
    • Pedigree and genetic study of a bilateral congenital microtia family
    • Zhang Q, Zhang J, Yin W. 2010. Pedigree and genetic study of a bilateral congenital microtia family. Plast Reconstr Surg 125: 979-987.
    • (2010) Plast Reconstr Surg , vol.125 , pp. 979-987
    • Zhang, Q.1    Zhang, J.2    Yin, W.3
  • 140
    • 70349814417 scopus 로고    scopus 로고
    • Environmental and genetic factors associated with congenital microtia: A case-control study in Jiangsu, China, 2004 to 2007
    • Zhang QG, Zhang J, Yu P, Shen H. 2009. Environmental and genetic factors associated with congenital microtia: A case-control study in Jiangsu, China, 2004 to 2007. Plast Reconstruct Surg 124: 1157-1164.
    • (2009) Plast Reconstruct Surg , vol.124 , pp. 1157-1164
    • Zhang, Q.G.1    Zhang, J.2    Yu, P.3    Shen, H.4
  • 141
    • 2142767027 scopus 로고    scopus 로고
    • An epidemiological investigation of anotia and microtia in China during 1988-1992
    • Zhu J, Wang Y, Liang J, Zhou G. 2000. An epidemiological investigation of anotia and microtia in China during 1988-1992. Zhonghua Er Bi Yan Hou Ke Za Zhi 35: 62-65.
    • (2000) Zhonghua Er Bi Yan Hou Ke Za Zhi , vol.35 , pp. 62-65
    • Zhu, J.1    Wang, Y.2    Liang, J.3    Zhou, G.4


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