SEARCH

SEARCH BY CITATION

REFERENCES

  • Aase JM, Tegtmeier RE. 1977. Microtia in New Mexico: Evidence for multifactorial causation. Birth Defects Orig Artic Ser 13: 113116.
  • Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, Konig R, Vigneron J, Weissenbach J, Petit C, Weil D. 1997. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 6: 22472255.
  • 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: 46134625.
  • Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, Van Camp G. 2008. A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. Am J Hum Genet 82: 982991.
  • Alasti F, Van Camp G. 2009. Genetics of microtia and associated syndromes. J Med Genet 46: 361369.
  • 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: 12411248.
  • 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: 16291639.
  • Artunduaga MA, Quintanilla-Dieck MD, Greenway S, Betensky R, Nicolau Y, Hamdan U, Jarrin P, Osorno G, Brent B, Eavey R, Seidman C, Seidman JG. 2009. A classic twin study of external ear malformations, including microtia. N Engl J Med 361: 12161218.
  • Balci S. 1974. Familial microtia with meatal atresia in father and son. Turk J Pediatr 16: 140143.
  • 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: 362365.
  • 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: 337347.
  • Bassila MK, Goldberg R. 1989. The association of facial palsy and/or sensorineural hearing loss in patients with hemifacial microsomia. Cleft Palate J 26: 287291.
  • 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: 592597.
  • 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: 58715881.
  • Calzolari F, Garani G, Sensi A, Martini A. 1999. Clinical and radiological evaluation in children with microtia. Br J Audiol 33: 303312.
  • 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: 905913.
  • 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. 329338.
  • Castilla EE, Lopez-Camelo JS, Campana H. 1999. Altitude as a risk factor for congenital anomalies. Am J Med Genet 86: 914.
  • Castilla EE, Orioli IM. 1986. Prevalence rates of microtia in South America. Int J Epidemiol 15: 364368.
  • Chafai Elalaoui S, Cherkaoui Jaouad I, Rifai L, Sefiani A. 2010. Autosomal dominant microtia. Eur J Med Genet 53: 100103.
  • Christophorou NA, Bailey AP, Hanson S, Streit A. 2009. Activation of Six1 target genes is required for sensory placode formation. Dev Biol 336: 327336.
  • Cook JD, Boy E, Flowers C, Daroca Mdel C. 2005. The influence of high-altitude living on body iron. Blood 106: 14411446.
  • Correa A, Gilboa SM, Besser LM, Botto LD, Moore CA, Hobbs CA, Cleves MA, Riehle-Colarusso TJ, Waller DK, Reece EA. 2008. Diabetes mellitus and birth defects. Am J Obstet Gynecol 199: 237e1239.
  • Coussons-Read ME, Mazzeo RS, Whitford MH, Schmitt M, Moore LG, Zamudio S. 2002. High altitude residence during pregnancy alters cytokine and catecholamine levels. Am J Reprod Immunol 48: 344354.
  • 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: 666671.
  • Davies AF, Imaizumi K, Mirza G, Stephens RS, Kuroki Y, Matsuno M, Ragoussis J. 1998. Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting. J Med Genet 35: 857861.
  • Digilio MC, McDonald-McGinn DM, Heike C, Catania C, Dallapiccola B, Marino B, Zackai EH. 2009. Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11. Am J Med Genet Part A 149A: 28602864.
  • 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: 383387.
  • Ellwood LC, Winter ST, Dar H. 1968. Familial microtia with meatal atresia in two sibships. J Med Genet 5: 289291.
  • 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. 6978.
  • Fogelgren B, Kuroyama MC, McBratney-Owen B, Spence AA, Malahn LE, Anawati MK, Cabatbat C, Alarcon VB, Marikawa Y, Lozanoff S. 2008. Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice. Dev Dyn 237: 17671779.
  • Forrester MB, Merz RD. 2005. Descriptive epidemiology of anotia and microtia, Hawaii, 1986–2002. Congenit Anom (Kyoto) 45: 119124.
  • 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: 11231136.
  • 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: 13171331.
  • Giannatou E, Leze H, Katana A, Kolialexi A, Mavrou A, Kanavakis E, Kitsiou-Tzeli S. 2009. Unilateral microtia in an infant with trisomy 18 mosaicism. Genet Couns 20: 181187.
  • González-Andrade F, López-Pulles R, Espín VH, Paz-y-Miño C. 2010. High altitude and microtia in Ecuadorian patients. J Neonatal Perinatal Med 3: 109116.
  • Gonzalez CH, Vargas FR, Perez AB, Kim CA, Brunoni D, Marques-Dias MJ, Leone CR, Correa Neto, Llerena J, Junior JC, de Almeida JC. 1993. Limb deficiency with or without Mobius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy. Am J Med Genet 47: 5964.
  • Gorlin RJ, Cohen MM, Hennekam RCM. 2001. Syndromes of the head and neck. Oxford, New York: Oxford University Press.
  • Grant SF, Wang K, Zhang H, Glaberson W, Annaiah K, Kim CE, Bradfield JP, Glessner JT, Thomas KA, Garris M, Frackelton EC, Otieno FG, Chiavacci RM, Nah HD, Kirschner RE, Hakonarson H. 2009. A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. J Pediatr 155: 909913.
  • 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: 13461358.
  • Guizar-Vazquez J, Arredondo-Vega F, Rostenberg I, Manzano C, Armendares S. 1978. Microtia and meatal atresia in mother and son. Clin Genet 14: 8082.
  • Gupta A, Patton MA. 1995. Familial microtia with meatal atresia and conductive deafness in five generations. Am J Med Genet 59: 238241.
  • 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: 186194.
  • Harris J, Kallen B, Robert E. 1996. The epidemiology of anotia and microtia. J Med Genet 33: 809813.
  • 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.
  • Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F. 2007. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet 80: 800804.
  • Hu D, Marcucio RS. 2009. Unique organization of the frontonasal ectodermal zone in birds and mammals. Dev Biol 325: 200210.
  • 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: 316320.
  • Hunter A, Frias JL, Gillessen-Kaesbach G, Hughes H, Jones KL, Wilson L. 2009a. Elements of morphology: Standard terminology for the ear. Am J Med Genet Part A 149A: 4060.
  • 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: 21812192.
  • 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: 435440.
  • Ingraham CR, Kinoshita A, Kondo S, Yang B, Sajan S, Trout KJ, Malik MI, Dunnwald M, Goudy SL, Lovett M, Murray JC, Schutte BC. 2006. Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). Nat Genet 38: 13351340.
  • 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: 461465.
  • Ito T, Ando H, Suzuki T, Ogura T, Hotta K, Imamura Y, Yamaguchi Y, Handa H. 2010. Identification of a primary target of thalidomide teratogenicity. Science 327: 13451350.
  • Jaffe BF. 1969. Incidence of ear diseases in Navajo Indians. Laryngoscope 79: 21262134.
  • Johnston MC, Bronsky PT. 1995. Prenatal craniofacial development: New insights on normal and abnormal mechanisms. Crit Rev Oral Biol Med 6: 368422.
  • Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC. 2011. Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: A subphenotype analysis using two population-based studies of orofacial clefts in Scandinavia. Birth Defects Res A Clin Mol Teratol 91: 8592.
  • Julian CG, Vargas E, Armaza JF, Wilson MJ, Niermeyer S, Moore LG. 2007. High-altitude ancestry protects against hypoxia-associated reductions in fetal growth. Arch Dis Child Fetal Neonatal Ed 92: F372F377.
  • Julian CG, Wilson MJ, Lopez M, Yamashiro H, Tellez W, Rodriguez A, Bigham AW, Shriver MD, Rodriguez C, Vargas E, Moore LG. 2009. Augmented uterine artery blood flow and oxygen delivery protect Andeans from altitude-associated reductions in fetal growth. Am J Physiol Regul Integr Comp Physiol 296: R1564R1575.
  • Kaur S, Singh G, Stock JL, Schreiner CM, Kier AB, Yager KL, Mucenski ML, Scott WJ Jr, Potter SS. 1992. Dominant mutation of the murine Hox-2.2 gene results in developmental abnormalities. J Exp Zool 264: 323336.
  • 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: 616626.
  • Kaye CI, Rollnick BR, Hauck WW, Martin AO, Richtsmeier JT, Nagatoshi K. 1989. Microtia and associated anomalies: Statistical analysis. Am J Med Genet 34: 574578.
  • 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: 399410.
  • Klieger-Grossmann C, Chitayat D, Lavign S, Kao K, Garcia-Bournissen F, Quinn D, Luo V, Sermer M, Riordan S, Laskin C, Matok I, Gorodischer R, Chambers C, Levi A, Koren G. 2010. Prenatal exposure to mycophenolate mofetil: An updated estimate. J Obstet Gynaecol Can 32: 794797.
  • Klockars T, Suutarla S, Kentala E, Ala-Mello S, Rautio J. 2007. Inheritance of microtia in the Finnish population. Int J Pediatr Otorhinolaryngol 71: 17831788.
  • Kmita M, Duboule D. 2003. Organizing axes in time and space; 25 years of colinear tinkering. Science 301: 331333.
  • Knight RD, Schilling TF. 2006. Cranial neural crest and development of the head skeleton. Adv Exp Med Biol 589: 120133.
  • Knobloch J, Shaughnessy JD Jr, Ruther U. 2007. Thalidomide induces limb deformities by perturbing the Bmp/Dkk1/Wnt signaling pathway. FASEB J 21: 14101421.
  • Konigsmark BW, Nager GT, Haskins HL. 1972. Recessive microtia, meatal atresia, and hearing loss. Report of a sibship. Arch Otolaryngol 96: 105109.
  • 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: 243251.
  • Laclef C, Souil E, Demignon J, Maire P. 2003. Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. Mech Dev 120: 669679.
  • Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, Braun JT, Curry CJ, Fernhoff PM, Grix AW Jr, Lott IT, Richard JM, Sun SC. 1985. Retinoic acid embryopathy. N Engl J Med 313: 837841.
  • Landgraf K, Bollig F, Trowe MO, Besenbeck B, Ebert C, Kruspe D, Kispert A, Hanel F, Englert C. 2010. Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development. Mol Cell Biol 30: 57645775.
  • 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: 23392341.
  • 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: 570576.
  • Liao J, Kochilas L, Nowotschin S, Arnold JS, Aggarwal VS, Epstein JA, Brown MC, Adams J, Morrow BE. 2004. Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet 13: 15771585.
  • Lin L, Pan B, Jiang HY, Zhuang HX, Zhao YY, Yang QH, He LR, Han J, Wang SJ. 2009. Study of methylation of promoter of EYA1 gene in microtia. Zhonghua Zheng Xing Wai Ke Za Zhi 25: 436439.
  • Llano-Rivas I, Gonzalez-del Angel A, del Castillo V, Reyes R, Carnevale A. 1999. Microtia: A clinical and genetic study at the National Institute of Pediatrics in Mexico City. Arch Med Res 30: 120124.
  • Ma C, Carmichael SL, Scheuerle AE, Canfield MA, Shaw GM. 2010. Association of Microtia With Maternal Obesity and Periconceptional Folic Acid Use. Am J Med Genet Part A 152A: 27562761.
  • Mallo M. 2003. Formation of the outer and middle ear, molecular mechanisms. Curr Top Dev Biol 57: 85113.
  • Marker PC, Seung K, Bland AE, Russell LB, Kingsley DM. 1997. Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice. Genetics 145: 435443.
  • 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: 12371249.
  • Marx H. 1926. Die Missbildungen des ohres. In: Denker A, Kahler O, editor. Handbuch der Spez Path Anatomie Histologie. Berlin, Germany: Springer. pp. 131.
  • 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: 453457.
  • Merlob P, Stahl B, Klinger G. 2009. Tetrada of the possible mycophenolate mofetil embryopathy: A review. Reprod Toxicol 28: 105108.
  • Monks DC, Jahangir A, Shanske AL, Samanich J, Morrow BE, Babcock M. 2010. Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia. Int J Pediatr Otorhinolaryngol 74: 878882.
  • Mouse Genome Database (MGD). Mouse Genome Informatics website. In: Laboratory TJ, editor. Bar Harbor, Maine: World Wide Web. Available at: http://www.informatics.jax.org.
  • 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: 515519.
  • 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: 12951301.
  • Nelson SM, Berry RI. 1984. Ear disease and hearing loss among Navajo children–a mass survey. Laryngoscope 94: 316323.
  • Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. 2010. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42: 790793.
  • Niermeyer S, Andrade Mollinedo P, Huicho L. 2009. Child health and living at high altitude. Arch Dis Child 94: 806811.
  • 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: 12481252.
  • Noden DM, Trainor PA. 2005. Relations and interactions between cranial mesoderm and neural crest populations. J Anat 207: 575601.
  • Okajima H, Takeichi Y, Umeda K, Baba S. 1996. Clinical analysis of 592 patients with microtia. Acta Otolaryngol Suppl 525: 1824.
  • Orioli IM, Castilla EE. 2000. Epidemiological assessment of misoprostol teratogenicity. BJOG 107: 519523.
  • Orstavik KH, Medbo S, Mair IW. 1990. Right-sided microtia and conductive hearing loss with variable expressivity in three generations. Clin Genet 38: 117120.
  • 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: 19.
  • Parman T, Wiley MJ, Wells PG. 1999. Free radical-mediated oxidative DNA damage in the mechanism of thalidomide teratogenicity. Nat Med 5: 582585.
  • 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: 23322344.
  • Passos-Bueno MR, Ornelas CC, Fanganiello RD. 2009. Syndromes of the first and second pharyngeal arches: A review. Am J Med Genet Part A 149A: 18531859.
  • Perez-Aytes A, Ledo A, Boso V, Saenz P, Roma E, Poveda JL, Vento M. 2008. In utero exposure to mycophenolate mofetil: A characteristic phenotype? Am J Med Genet Part A 146A: 17.
  • POSSUM: A dysmorphology database of multiple malformations, metabolic, teratogenic, chromosomal and skeletal syndromes and their images - for learning diagnosis 2010. Melbourne, Australia: Murdoch Childrens Research Institute.
  • Poswillo D. 1973. The pathogenesis of the first and second branchial arch syndrome. Oral Surg Oral Med Oral Pathol 35: 302328.
  • Poswillo D. 1975. Hemorrhage in development of the face. Birth Defects Orig Artic Ser 11: 6181.
  • Rodriguez Soriano J. 2003. Branchio-oto-renal syndrome. J Nephrol 16: 603605.
  • 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. 311.
  • Rollnick BR, Kaye CI. 1983. Hemifacial microsomia and variants: Pedigree data. Am J Med Genet 15: 233253.
  • 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: 107123.
  • Russell LB, Hunsicker PR, Cacheiro NL, Bangham JW, Russell WL, Shelby MD. 1989. Chlorambucil effectively induces deletion mutations in mouse germ cells. Proc Natl Acad Sci U S A 86: 37043708.
  • Sadler TW, Rasmussen SA. 2010. Examining the evidence for vascular pathogenesis of selected birth defects. Am J Med Genet Part A 152A: 24262436.
  • 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: 166170.
  • Schinzel A. 2001. Catalogue of unbalanced chromosome aberrations in man. Berlin: Walter de Gruyter.
  • Schmid M, Schroder M, Langenbeck U. 1985. Familial microtia, meatal atresia, and conductive deafness in three siblings. Am J Med Genet 22: 327332.
  • Schoenwolf GC, Larsen WJ. 2009a. Development of the ears and eyes. In: Livingstone/Elsevier C, editor. Larsen's human embryology. 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.
  • Shaw GM, Carmichael SL, Kaidarova Z, Harris JA. 2004. Epidemiologic characteristics of anotia and microtia in California 1989–1997. Birth Defects Res A Clin Mol Teratol 70: 472475.
  • 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: 14661473.
  • Stern RS, Rosa F, Baum C. 1984. Isotretinoin and pregnancy. J Am Acad Dermatol 10: 851854.
  • Stevenson RE. 2006. Human malformations and related anomalies. Oxford New York: Oxford University Press.
  • 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: 459460.
  • Suutarla S, Rautio J, Ritvanen A, Ala-Mello S, Jero J, Klockars T. 2007. Microtia in Finland: Comparison of characteristics in different populations. Int J Pediatr Otorhinolaryngol 71: 12111217.
  • Tanzer RC. 1978. Microtia. Clin Plast Surg 5: 317336.
  • Tasse C, Bohringer S, Fischer S, Ludecke HJ, Albrecht B, Horn D, Janecke A, Kling R, Konig R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D. 2005. Oculo-auriculo-vertebral spectrum (OAVS): Clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 48: 397411.
  • 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: 1174611750.
  • 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: 29842994.
  • Vargas FR, Schuler-Faccini L, Brunoni D, Kim C, Meloni VF, Sugayama SM, Albano L, Llerena JC Jr, Almeida JC, Duarte A, Cavalcanti DP, Goloni-Bertollo E, Conte A, Koren G, Addis A. 2000. Prenatal exposure to misoprostol and vascular disruption defects: A case-control study. Am J Med Genet 95: 302306.
  • Vrontou S, Petrou P, Meyer BI, Galanopoulos VK, Imai K, Yanagi M, Chowdhury K, Scambler PJ, Chalepakis G. 2003. Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nat Genet 34: 209214.
  • Watson WJ, Katz VL, Albright SG, Rao KW, Aylsworth AS. 1990. Monozygotic twins discordant for partial trisomy 1. Obstet Gynecol 76: 949951.
  • Weerda H. 1988. Classification of congenital deformities of the auricle. Facial Plast Surg 5: 385388.
  • Wright TJ, Mansour SL. 2003. Fgf3 and Fgf10 are required for mouse otic placode induction. Development 130: 33793390.
  • Yamada G, Mansouri A, Torres M, Stuart ET, Blum M, Schultz M, De Robertis EM, Gruss P. 1995. Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death. Development 121: 29172922.
  • Yamaguchi TP, Bradley A, McMahon AP, Jones S. 1999. A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo. Development 126: 12111223.
  • Yang J, Carmichael SL, Kaidarova Z, Shaw GM. 2004. Risks of selected congenital malformations among offspring of mixed race-ethnicity. Birth Defects Res A Clin Mol Teratol 70: 820824.
  • 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: 779790.
  • Zamudio S, Baumann MU, Illsley NP. 2006. Effects of chronic hypoxia in vivo on the expression of human placental glucose transporters. Placenta 27: 4955.
  • Zankl M, Zang KD. 1979. Inheritance of microtia and aural atresia in a family with five affected members. Clin Genet 16: 331334.
  • 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: 464469.
  • Zhang Q, Zhang J, Yin W. 2010. Pedigree and genetic study of a bilateral congenital microtia family. Plast Reconstr Surg 125: 979987.
  • 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: 11571164.
  • 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: 6265.