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Volumn 10, Issue 3, 2007, Pages 121-128

Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (Hemifacial Microsomia)

Author keywords

Craniofacial genetics; Goldenhar syndrome; Hemifacial microsomia; Oculoauriculovertebral dysplasia; Oculoauriculovertebral spectrum; Orthodontics

Indexed keywords

FACE ASYMMETRY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; GOLDENHAR SYNDROME; HUMAN; PHENOTYPE; PRENATAL DEVELOPMENT; REVIEW;

EID: 35248846538     PISSN: 16016335     EISSN: 16016343     Source Type: Journal    
DOI: 10.1111/j.1601-6343.2007.00391.x     Document Type: Article
Times cited : (97)

References (51)
  • 1
    • 0001578146 scopus 로고
    • Associations malformatives do I'oeil et de I'oreille, en particulier le syndrome dermöide epidbulbaire - appendices auricularies - fistula auris congenita et ses relations avec la dysostose mandibulo-faciale
    • Goldenhar M. Associations malformatives do I'oeil et de I'oreille, en particulier le syndrome dermöide epidbulbaire - appendices auricularies - fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum 1952;1: 243-82.
    • (1952) J Genet Hum , vol.1 , pp. 243-282
    • Goldenhar, M.1
  • 3
    • 0003868876 scopus 로고    scopus 로고
    • Syndromes of the Head and Neck
    • 2nd edn. New York: McGraw-Hill
    • Gorlin RJ, Pindborg JJ. Syndromes of the Head and Neck. 2nd edn. New York: McGraw-Hill. pp. 546-52.
    • Gorlin, R.J.1    Pindborg, J.J.2
  • 4
    • 0003868876 scopus 로고    scopus 로고
    • Syndromes of the Head and Neck
    • 4th edn. New York: Oxford University Press
    • Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head and Neck, 4th edn. New York: Oxford University Press. pp. 790-8.
    • Gorlin, R.J.1    Cohen, M.M.2    Hennekam, R.C.M.3
  • 5
    • 33751205362 scopus 로고    scopus 로고
    • A case of unilateral coronal synostosis in a child with craniofacial microsomia
    • Terry MJ, Ascherman JA. A case of unilateral coronal synostosis in a child with craniofacial microsomia. Cleft Palate Craniofac J 2006;43:752-6.
    • (2006) Cleft Palate Craniofac J , vol.43 , pp. 752-756
    • Terry, M.J.1    Ascherman, J.A.2
  • 6
    • 0016291828 scopus 로고
    • Otomandibular deformity: pathogenesis as a guide to reconstruction
    • Poswillo D. Otomandibular deformity: pathogenesis as a guide to reconstruction. J Maxillofac Surg 1974;2:64-72.
    • (1974) J Maxillofac Surg , vol.2 , pp. 64-72
    • Poswillo, D.1
  • 7
    • 0013818980 scopus 로고
    • The first and second branchial arch syndrome
    • Grabb WC. The first and second branchial arch syndrome. Plast Reconstr Surg 1965;36:485-508.
    • (1965) Plast Reconstr Surg , vol.36 , pp. 485-508
    • Grabb, W.C.1
  • 8
    • 0019252623 scopus 로고
    • The etiology of external ear malformations and its relation to abnormalities of the middle ear, inner ear, and other organ systems
    • Melnick M. The etiology of external ear malformations and its relation to abnormalities of the middle ear, inner ear, and other organ systems. Birth Defects 1980;16:303-31.
    • (1980) Birth Defects , vol.16 , pp. 303-331
    • Melnick, M.1
  • 13
    • 0021805909 scopus 로고
    • Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure
    • Gustavson EE, Chen H. Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure. Teratology 1985;32:13-7.
    • (1985) Teratology , vol.32 , pp. 13-17
    • Gustavson, E.E.1    Chen, H.2
  • 15
    • 0344341695 scopus 로고
    • The incidence of limb and ear defects since the withdrawal of thalidomide
    • Smithells RW, Leek I. The incidence of limb and ear defects since the withdrawal of thalidomide. Lancet 1963;1:1095-7.
    • (1963) Lancet , vol.1 , pp. 1095-1097
    • Smithells, R.W.1    Leek, I.2
  • 17
    • 0026569049 scopus 로고    scopus 로고
    • Hemifacial microsomia: developmental consequence of perturbation of the auriculofacial cartilage model
    • Cousley RRJ, Wilson DJ. Hemifacial microsomia: developmental consequence of perturbation of the auriculofacial cartilage model. Am J Med Genet 2005;42:461-6.
    • (2005) Am J Med Genet , vol.42 , pp. 461-466
    • Cousley, R.R.J.1    Wilson, D.J.2
  • 19
    • 34250273066 scopus 로고
    • Developmental terms - some proposals
    • Spranger JW. Developmental terms - some proposals. Eur J Pediatr 1979;131:1-7.
    • (1979) Eur J Pediatr , vol.131 , pp. 1-7
    • Spranger, J.W.1
  • 20
    • 0003597161 scopus 로고    scopus 로고
    • Smith's Recognizable Patterns of Human Malformation, 5th edn
    • Philadelphia, PA: WB Saunders , 35.
    • Jones KL. Smith's Recognizable Patterns of Human Malformation, 5th edn. Philadelphia, PA: WB Saunders; pp. 618, 35.
    • Jones, K.L.1
  • 21
    • 0029814260 scopus 로고    scopus 로고
    • Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism
    • Van Meter TD, Weaver DD. Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism. Clin Dysmorphol 1996;5: 187-96.
    • (1996) Clin Dysmorphol , vol.5 , pp. 187-196
    • Van Meter, T.D.1    Weaver, D.D.2
  • 22
    • 0042193658 scopus 로고    scopus 로고
    • Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)
    • Bergmann C, Zerres K, Peschgens T, Senderek J, Hornchen H, Rudnik-Schoneborn S. Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC). Am J Hum Genet 2003;121A:151-5.
    • (2003) Am J Hum Genet , vol.121 A , pp. 151-155
    • Bergmann, C.1    Zerres, K.2    Peschgens, T.3    Senderek, J.4    Hornchen, H.5    Rudnik-Schoneborn, S.6
  • 23
    • 3142666855 scopus 로고    scopus 로고
    • Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS)
    • Källén K, Robert E, Castilla EE, Mastroiacovo P, Källén B. Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS). Am J Med Genet 2004;127A:26-34.
    • (2004) Am J Med Genet , vol.127 A , pp. 26-34
    • Källén, K.1    Robert, E.2    Castilla, E.E.3    Mastroiacovo, P.4    Källén, B.5
  • 24
  • 25
    • 0020631024 scopus 로고
    • Hemifacial microsomia and variants: pedigree data
    • Rollnick BR, Kaye CI. Hemifacial microsomia and variants: pedigree data. Am J Med Genet 1983;15:233-53.
    • (1983) Am J Med Genet , vol.15 , pp. 233-253
    • Rollnick, B.R.1    Kaye, C.I.2
  • 26
    • 0022876636 scopus 로고
    • Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients
    • Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO. Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am J Med Genet 1987;26:361-75.
    • (1987) Am J Med Genet , vol.26 , pp. 361-375
    • Rollnick, B.R.1    Kaye, C.I.2    Nagatoshi, K.3    Hauck, W.4    Martin, A.O.5
  • 27
    • 0023988592 scopus 로고
    • Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly
    • Ryan CA, Finer NN, Ives E. Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly. Am J Med Genet 1988;29:755-61.
    • (1988) Am J Med Genet , vol.29 , pp. 755-761
    • Ryan, C.A.1    Finer, N.N.2    Ives, E.3
  • 28
    • 0000617340 scopus 로고
    • Familial Goldenhar syndrome
    • Summitt RL. Familial Goldenhar syndrome. Birth Defects 1969;5:106-9.
    • (1969) Birth Defects , vol.5 , pp. 106-109
    • Summitt, R.L.1
  • 29
    • 0020036380 scopus 로고
    • Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia
    • Regenbogen L, Godel V, Goya V, Goodman RM. Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia. Clin Genet 1982;21:161-7.
    • (1982) Clin Genet , vol.21 , pp. 161-167
    • Regenbogen, L.1    Godel, V.2    Goya, V.3    Goodman, R.M.4
  • 30
  • 31
    • 0031902312 scopus 로고    scopus 로고
    • A family with dominant oculoauriculovertebral spectrum
    • Stoll C, Viville B, Treisser A, Gasser B. A family with dominant oculoauriculovertebral spectrum. Am J Med Genet 1998;78:345-9.
    • (1998) Am J Med Genet , vol.78 , pp. 345-349
    • Stoll, C.1    Viville, B.2    Treisser, A.3    Gasser, B.4
  • 34
    • 18244364173 scopus 로고    scopus 로고
    • Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome
    • Kelberman D, Tyson J, Chandler DC, McInerney AM, Slee J, Albert D et al. Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Hum Genet 2001;109:638-45.
    • (2001) Hum Genet , vol.109 , pp. 638-645
    • Kelberman, D.1    Tyson, J.2    Chandler, D.C.3    McInerney, A.M.4    Slee, J.5    Albert, D.6
  • 35
    • 0034092616 scopus 로고    scopus 로고
    • Quantitative approach to identifying abnormal variation in the human face exemplified by a study of 278 individuals with five craniofacial syndromes
    • Ward RE, Jamison PL, Allanson JE. Quantitative approach to identifying abnormal variation in the human face exemplified by a study of 278 individuals with five craniofacial syndromes. Am J Med Genet 2000;91:8-17.
    • (2000) Am J Med Genet , vol.91 , pp. 8-17
    • Ward, R.E.1    Jamison, P.L.2    Allanson, J.E.3
  • 36
    • 0010384762 scopus 로고    scopus 로고
    • Mouse models for craniofacial anomalies
    • In: Davidovitch Z, Mah J, editors. Boston, MA: Harvard Society for the Advancement of Orthodontics
    • Everett ET, Hartsfield JK Jr. Mouse models for craniofacial anomalies. In: Davidovitch Z, Mah J, editors. Biological Mechanisms of Tooth Movement and Craniofacial Adaptation. Boston, MA: Harvard Society for the Advancement of Orthodontics. pp. 287-98.
    • Biological Mechanisms of Tooth Movement and Craniofacial Adaptation , pp. 287-298
    • Everett, E.T.1    Hartsfield, J.K.2
  • 37
    • 0015593387 scopus 로고
    • The pathogenesis of the first and second branchial arch syndrome
    • Poswillo DE. The pathogenesis of the first and second branchial arch syndrome. Oral Surg 1973;35:302-28.
    • (1973) Oral Surg , vol.35 , pp. 302-328
    • Poswillo, D.E.1
  • 39
    • 0015517643 scopus 로고
    • The marmoset as an animal model for teratological research
    • Poswillo DE, Hamilton WJ, Sopher D. The marmoset as an animal model for teratological research. Nature 1972;239:460-2.
    • (1972) Nature , vol.239 , pp. 460-462
    • Poswillo, D.E.1    Hamilton, W.J.2    Sopher, D.3
  • 40
    • 0016708428 scopus 로고
    • Hemorrhage in development of the face
    • Poswillo DE. Hemorrhage in development of the face. Birth Defects 1975;11:61-81.
    • (1975) Birth Defects , vol.11 , pp. 61-81
    • Poswillo, D.E.1
  • 41
    • 0021257021 scopus 로고
    • Congenital anomalies of the ear resulting from cyclophosphamide treatment in the rat
    • Padmanabhan R, Singh S. Congenital anomalies of the ear resulting from cyclophosphamide treatment in the rat. Acta Anat (Basel) 1984;119:217-23.
    • (1984) Acta Anat (Basel) , vol.119 , pp. 217-223
    • Padmanabhan, R.1    Singh, S.2
  • 42
    • 0022537899 scopus 로고
    • Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Mobius anomalies
    • Bavinck JN, Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Mobius anomalies. Am J Med Genet 1986;23:903-18.
    • (1986) Am J Med Genet , vol.23 , pp. 903-918
    • Bavinck, J.N.1    Weaver, D.D.2
  • 43
    • 0027337985 scopus 로고
    • Mobius sequence: further in vivo support for the subclavian artery supply disruption sequence
    • St Charles S, DiMario FJ Jr, Grunnet ML. Mobius sequence: further in vivo support for the subclavian artery supply disruption sequence. Am J Med Genet 1993;47:289-93.
    • (1993) Am J Med Genet , vol.47 , pp. 289-293
    • St Charles, S.1    DiMario, F.J.2    Grunnet, M.L.3
  • 44
    • 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 et al. Microtia as an autosomal dominant mutation in a transgenic mouse line: a possible animal model of branchial arch anomalies. Anat Anz 1991;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
  • 45
    • 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 et al. Transgenic mouse model of hemifacial microsomia: cloning and characterization of insertional mutation region on chromosome 10. Genomics 1994;23:515-9.
    • (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
  • 47
    • 0026377833 scopus 로고
    • Mapping the mouse craniofacial mutation first arch (Far) to chromosome 2
    • Juriloff DM, Harris MJ. Mapping the mouse craniofacial mutation first arch (Far) to chromosome 2. J Hered 1991;82:402-5.
    • (1991) J Hered , vol.82 , pp. 402-405
    • Juriloff, D.M.1    Harris, M.J.2
  • 48
    • 0028464360 scopus 로고
    • Mapping Far (First arch) in relation to molecular markers on mouse chromosome 2
    • Juriloff DM, Harris MJ, Mah DG. Mapping Far (First arch) in relation to molecular markers on mouse chromosome 2. Mamm Genome 1994;5:450-2.
    • (1994) Mamm Genome , vol.5 , pp. 450-452
    • Juriloff, D.M.1    Harris, M.J.2    Mah, D.G.3
  • 51
    • 0023243771 scopus 로고
    • Hemifacial deficiency induced by a shift in dominance of the mouse mutation far: a possible genetic model for hemifacial microsomia
    • Juriloff DM, Harris MJ, Froster-Iskenius U. Hemifacial deficiency induced by a shift in dominance of the mouse mutation far: a possible genetic model for hemifacial microsomia. J Craniofac Genet Dev Biol 1987;7:27-44.
    • (1987) J Craniofac Genet Dev Biol , vol.7 , pp. 27-44
    • Juriloff, D.M.1    Harris, M.J.2    Froster-Iskenius, U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.