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Volumn 43, Issue 4, 2006, Pages 429-434

Macrostomia, preauricular tags, and external ophthalmoplegia: A new autosomal dominant syndrome within the oculoauriculovertebral spectrum?

Author keywords

Autosomal dominant; External ophthalmoplegia; Goldenhar syndrome; New syndrome; Oculoauriculovertebral spectrum

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRANCHIAL ARCH; BRAZIL; CLINICAL ARTICLE; CONTROLLED STUDY; EMBRYO DEVELOPMENT; EXTERNAL OPHTHALMOPLEGIA; FAMILIAL DISEASE; FEMALE; GOLDENHAR SYNDROME; HUMAN; MACROSTOMIA; MALE; PHENOTYPE; PREAURICULAR TAG; PRIORITY JOURNAL; PTOSIS; SYNDROME;

EID: 33746300298     PISSN: 10556656     EISSN: None     Source Type: Journal    
DOI: 10.1597/05-060R.1     Document Type: Article
Times cited : (3)

References (33)
  • 1
    • 0017134214 scopus 로고
    • Congenital ophthalmoplegia in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome): A clinicopathologic study and review of the literature
    • Aleksic S, Budzilovich G, Choy A, Reuben R, Randt C, Finegold M, McCarthy J, Converse, Feigin I. Congenital ophthalmoplegia in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome): a clinicopathologic study and review of the literature. Neurology. 1976;26:638-644.
    • (1976) Neurology , vol.26 , pp. 638-644
    • Aleksic, S.1    Budzilovich, G.2    Choy, A.3    Reuben, R.4    Randt, C.5    Finegold, M.6    McCarthy, J.7    Converse8    Feigin, I.9
  • 2
    • 18044382757 scopus 로고    scopus 로고
    • Autosomal dominant microtia and ocular coloboma: New syndrome or an extension of the oculo-auriculo-vertebral spectrum?
    • Beck AE, Hudgins L, Hoyme HE. Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? Am J Med Genet. 2005;134A:359-362.
    • (2005) Am J Med Genet , vol.134 A , pp. 359-362
    • Beck, A.E.1    Hudgins, L.2    Hoyme, H.E.3
  • 3
    • 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 Med Genet. 2003;121A:151-155.
    • (2003) Am J Med 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
  • 4
    • 1642295637 scopus 로고    scopus 로고
    • Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) with congenital facial nerve palsy
    • Berker N, Acaroglu G, Soykan E. Goldenhar's Syndrome (oculo-auriculo- vertebral dysplasia) with congenital facial nerve palsy. Yonsei Med J. 2004;45: 157-160.
    • (2004) Yonsei Med J , vol.45 , pp. 157-160
    • Berker, N.1    Acaroglu, G.2    Soykan, E.3
  • 6
    • 0037438595 scopus 로고    scopus 로고
    • Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects
    • Derbent M, Yilmaz Z, Baltaci V, Saygili A, Varan B, Tokel K. Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am J Med Genet A. 2003;116A:129-135.
    • (2003) Am J Med Genet A , vol.116 A , pp. 129-135
    • Derbent, M.1    Yilmaz, Z.2    Baltaci, V.3    Saygili, A.4    Varan, B.5    Tokel, K.6
  • 10
    • 0033008615 scopus 로고    scopus 로고
    • Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?
    • Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? Clin Dysmorphol. 1999;8:1-4.
    • (1999) Clin Dysmorphol , vol.8 , pp. 1-4
    • Guion-Almeida, M.L.1    Richieri-Costa, A.2
  • 12
    • 3142666855 scopus 로고    scopus 로고
    • Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS)
    • Kallen K, Robert E, Castilla EE, Mastroiacovo P, Kallen 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
    • Kallen, K.1    Robert, E.2    Castilla, E.E.3    Mastroiacovo, P.4    Kallen, B.5
  • 14
    • 0014722975 scopus 로고
    • The syndrome of Goldenhar affecting two siblings
    • Krause VH. The syndrome of Goldenhar affecting two siblings. Acta Ophthalmol (Copenh). 1970;48:494-499.
    • (1970) Acta Ophthalmol (Copenh) , vol.48 , pp. 494-499
    • Krause, V.H.1
  • 15
    • 0034583692 scopus 로고    scopus 로고
    • A theory on the embryogenesis of oculo-auriculo-vertebral (Goldenhar) syndrome
    • Lam CH. A theory on the embryogenesis of oculo-auriculo-vertebral (Goldenhar) syndrome. J Craniofac Surg. 2000;11:547-552.
    • (2000) J Craniofac Surg , vol.11 , pp. 547-552
    • Lam, C.H.1
  • 16
    • 0004293174 scopus 로고
    • New York: Churchill Livingstone
    • Larsen WJ. Human Embryology. New York: Churchill Livingstone; 1993.
    • (1993) Human Embryology
    • Larsen, W.J.1
  • 18
    • 0019962350 scopus 로고
    • Familial occurrence of hemifacial microsomia with radial limb defects
    • Moeschler J, Clarren SK. Familial occurrence of hemifacial microsomia with radial limb defects. Am J Med Genet. 1982;12:371-375.
    • (1982) Am J Med Genet , vol.12 , pp. 371-375
    • Moeschler, J.1    Clarren, S.K.2
  • 19
    • 0022939118 scopus 로고
    • A patient with median cleft face anomaly and bilateral Goldenhar anomaly
    • Musarella MA, Young ID. A patient with median cleft face anomaly and bilateral Goldenhar anomaly. Am J Med Genet. 1986;2(suppl):135-141.
    • (1986) Am J Med Genet , vol.2 , Issue.SUPPL. , pp. 135-141
    • Musarella, M.A.1    Young, I.D.2
  • 21
    • 0015593387 scopus 로고
    • The pathogenesis of the first and second branchial arch syndrome
    • Poswillo D. The pathogenesis of the first and second branchial arch syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1973;35:302-329.
    • (1973) Oral Surg Oral Med Oral Pathol Oral Radiol Endod , vol.35 , pp. 302-329
    • Poswillo, D.1
  • 22
    • 0022939348 scopus 로고
    • Hemifacial microsomia, ipsilateral facial palsy, and malformed auricle in two families: An autosomal dominant malformation
    • Robinow M, Reynolds JF, Fitzgerald J, Bryant JA. Hemifacial microsomia, ipsilateral facial palsy, and malformed auricle in two families: an autosomal dominant malformation. Am J Med Genet. 1986;2(suppl):129-133.
    • (1986) Am J Med Genet , vol.2 , Issue.SUPPL. , pp. 129-133
    • Robinow, M.1    Reynolds, J.F.2    Fitzgerald, J.3    Bryant, J.A.4
  • 23
    • 0020631024 scopus 로고
    • Hemifacial microsomia and variants: Pedigree data
    • Rollnick BR, Kaye CI. Hemifacial microsomia and variants: pedigree data. Am J Med Genet. 1983;15:233-253.
    • (1983) Am J Med Genet , vol.15 , pp. 233-253
    • Rollnick, B.R.1    Kaye, C.I.2
  • 24
    • 0020965378 scopus 로고
    • Congenital horizontal gaze paralysis and ear dysplasia - A syndrome
    • Safran AB, Roth A, Haenggeli CA. Congenital horizontal gaze paralysis and ear dysplasia - a syndrome. Ophthalmologica. 1983;187:157-160.
    • (1983) Ophthalmologica , vol.187 , pp. 157-160
    • Safran, A.B.1    Roth, A.2    Haenggeli, C.A.3
  • 25
    • 0028528390 scopus 로고
    • Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports
    • Singer SL, Haan E, Slee J, Goldblatt J. Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports. Aust Dent J. 1994;39:287-291.
    • (1994) Aust Dent J , vol.39 , pp. 287-291
    • Singer, S.L.1    Haan, E.2    Slee, J.3    Goldblatt, J.4
  • 26
    • 0034468140 scopus 로고    scopus 로고
    • Oculo-auriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: Coincidental findings or etiologic factor?
    • Stanojevic M, Stipoljev F, Koprcina B, Kurjak A. Oculo-auriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: coincidental findings or etiologic factor? J Craniofac Genet Dev Biol. 2000;20:150-154.
    • (2000) J Craniofac Genet Dev Biol , vol.20 , pp. 150-154
    • Stanojevic, M.1    Stipoljev, F.2    Koprcina, B.3    Kurjak, A.4
  • 27
    • 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;78:345-349.
    • (1998) Am J Med Genet , vol.78 , pp. 345-349
    • Stoll, C.1    Viville, B.2    Treisser, A.3    Gasser, B.4
  • 28
    • 12344335016 scopus 로고    scopus 로고
    • Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients
    • Tiab L, d'Alleves Manzi V, Borruat FX, Munier F, Schorderet D. Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. Ophthalmic Genet. 2004;25:241-246.
    • (2004) Ophthalmic Genet , vol.25 , pp. 241-246
    • Tiab, L.1    D'Alleves Manzi, V.2    Borruat, F.X.3    Munier, F.4    Schorderet, D.5
  • 29
    • 0026457151 scopus 로고
    • Oculo-auriculo-vertebral complex and uncommon associated anomalies: Report on 8 unrelated Brazilian patients
    • van Bever Y, van den Ende JJ, Richieri-Costa A. Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients. Am J Med Genet. 1992;44:683-690.
    • (1992) Am J Med Genet , vol.44 , pp. 683-690
    • Bever, Y.1    Van Den Ende, J.J.2    Richieri-Costa, A.3
  • 30
    • 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;5:187-196.
    • (1996) Clin Dysmorphol , vol.5 , pp. 187-196
    • Van Meter, T.D.1    Weaver, D.D.2
  • 31
    • 0026849494 scopus 로고
    • Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome-a case report
    • Verma MJ, Faridi MM. Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome-a case report. Indian J Ophthalmol. 1992;40:61-62.
    • (1992) Indian J Ophthalmol , vol.40 , pp. 61-62
    • Verma, M.J.1    Faridi, M.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.