메뉴 건너뛰기




Volumn 16, Issue 1, 2007, Pages 1-7

A family with autosomal dominant oculo-auriculo-vertebral spectrum

Author keywords

Bilateral involvement; Dermoids; Goldenhar syndrome; Hemifacial microsomia

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BRANCHIAL ARCH; CASE REPORT; CLINICAL FEATURE; EXTERNAL AUDITORY CANAL; EXTERNAL EAR MALFORMATION; FEMALE; GOLDENHAR SYNDROME; HEARING LOSS; HEMIFACIAL MICROSOMIA; HUMAN; JAW MALFORMATION; MANDIBLE; MOUTH MALFORMATION; OCULOAURICULOVERTEBRAL SPECTRUM; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SYMPTOM; TERATOMA;

EID: 33845623172     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328010d313     Document Type: Article
Times cited : (67)

References (35)
  • 1
    • 0015581051 scopus 로고
    • Ocular aspects of Goldenhar's syndrome
    • Baum JL, Feingold M (1973). Ocular aspects of Goldenhar's syndrome. Am J Ophthalmol 75:250-257.
    • (1973) Am J Ophthalmol , vol.75 , pp. 250-257
    • Baum, J.L.1    Feingold, M.2
  • 2
    • 0024407461 scopus 로고
    • Oculoauriculovertebral spectrum: An updated critique
    • Cohen MM Jr, Rollnick BR, Kaye CI (1989). Oculoauriculovertebral spectrum: an updated critique. Cleft Palate J 26:276-286.
    • (1989) Cleft Palate J , vol.26 , pp. 276-286
    • Cohen Jr., M.M.1    Rollnick, B.R.2    Kaye, C.I.3
  • 7
    • 0001578146 scopus 로고
    • Associations of malformations of the eyes and the ears
    • [in French]
    • Goldenhar M (1952). Associations of malformations of the eyes and the ears [in French]. J Génét Hum 1:243-282.
    • (1952) J Génét Hum , vol.1 , pp. 243-282
    • Goldenhar, M.1
  • 10
    • 0010370311 scopus 로고
    • Oculoauriculovertebral dysplasia
    • Gorlin RJ, Pindborg J, Cohen MM Jr, editors New York: McGraw-Hill; (1976.)
    • Gorlin RJ, Pindborg J, Cohen MM Jr (1976). Oculoauriculovertebral dysplasia. In: Gorlin RJ, Pindborg J, Cohen MM Jr, editors. Syndromes of the head and neck. 2nd ed. New York: McGraw-Hill; (1976.) pp. 546-552.
    • (1976) Syndromes of the Head and Neck. 2nd Ed. , pp. 546-552
    • Gorlin, R.J.1    Pindborg, J.2    Cohen Jr., M.M.3
  • 11
    • 0013818980 scopus 로고
    • The first and second branchial arch syndrome
    • Grabb WC (1965). The first and second branchial arch syndrome. Plast Reconstr Surg 36:485-508.
    • (1965) Plast Reconstr Surg , vol.36 , pp. 485-508
    • Grabb, W.C.1
  • 12
    • 0000483114 scopus 로고
    • A dominantly inherited first arch syndrome
    • Herrmann J, Opitz JM (1969). A dominantly inherited first arch syndrome. Birth Defects 5:110-112.
    • (1969) Birth Defects , vol.5 , pp. 110-112
    • Herrmann, J.1    Opitz, J.M.2
  • 14
    • 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. (2001). Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Hum Genet 109:638-645.
    • (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
  • 15
    • 84993919251 scopus 로고
    • Goldenhar's syndrome: Two cases of oculo-auriculo-vertebral dysplasia occuring in full-blood Australian aboriginal sisters
    • Kirke DK (1970). Goldenhar's syndrome: two cases of oculo-auriculo- vertebral dysplasia occuring in full-blood Australian aboriginal sisters. Aust Paediatr J 6:213-214.
    • (1970) Aust Paediatr J , vol.6 , pp. 213-214
    • Kirke, D.K.1
  • 16
    • 0014722975 scopus 로고
    • The syndrome of Goldenhar affecting two siblings
    • (Copenhagen)
    • Krause U (1970). The syndrome of Goldenhar affecting two siblings. Acta Ophthalmol (Copenhagen) 48:494-499.
    • (1970) Acta Ophthalmol , vol.48 , pp. 494-499
    • Krause, U.1
  • 17
    • 0034583692 scopus 로고    scopus 로고
    • A theory on the embryogenesis of oculo-auriculo-vertebral (Goldenhar) syndrome
    • Lam CH (2000). A theory on the embryogenesis of oculo-auriculo-vertebral (Goldenhar) syndrome. J Craniofac Surg 11:547-552.
    • (2000) J Craniofac Surg , vol.11 , pp. 547-552
    • Lam, C.H.1
  • 20
    • 0022357330 scopus 로고
    • Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome)
    • Mansour AM, Wang F, Henkind P, Goldberg R, Shprintzen R (1985). Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Am J Ophthalmol 100:555-559.
    • (1985) Am J Ophthalmol , vol.100 , pp. 555-559
    • Mansour, A.M.1    Wang, F.2    Henkind, P.3    Goldberg, R.4    Shprintzen, R.5
  • 21
    • 0343583383 scopus 로고
    • Ear abnormality, facial and abducent nerve paralysis as a syndrome of thalidomide injury
    • Miehlke A, Partsch CJ (1963). Ear abnormality, facial and abducent nerve paralysis as a syndrome of thalidomide injury. Arch Ohren Nasen Kehlkopfheilkd 181:154-174.
    • (1963) Arch Ohren Nasen Kehlkopfheilkd , vol.181 , pp. 154-174
    • Miehlke, A.1    Partsch, C.J.2
  • 22
    • 0018191536 scopus 로고
    • Progressive hearing loss in Goldenhar's syndrome
    • Parving A (1978). Progressive hearing loss in Goldenhar's syndrome. Scand Audiol 7:101-103.
    • (1978) Scand Audiol , vol.7 , pp. 101-103
    • Parving, A.1
  • 23
    • 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
  • 24
    • 0020036380 scopus 로고
    • Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia
    • Regenbogen L, Godel V, Goya V, Goodman RM (1982). Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia. Clin Genet 21:161-167.
    • (1982) Clin Genet , vol.21 , pp. 161-167
    • Regenbogen, L.1    Godel, V.2    Goya, V.3    Goodman, R.M.4
  • 25
    • 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 (1986). Hemifacial microsomia, ipsilateral facial palsy, and malformed auricle in two families: an autosomal dominant malformation. Am J Med Genet Suppl 2:129-133.
    • (1986) Am J Med Genet Suppl , vol.2 , pp. 129-133
    • Robinow, M.1    Reynolds, J.F.2    FitzGerald, J.3    Bryant, J.A.4
  • 26
    • 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
  • 27
    • 0022876636 scopus 로고
    • Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients
    • Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO (1987). Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am J Med Genet 26:361-375.
    • (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
  • 28
    • 17044400895 scopus 로고
    • Aplasia-hypoplasia of the otic labyrinth after thalidomide
    • Rosendal T (1965). Aplasia-hypoplasia of the otic labyrinth after thalidomide. Acta Radiol Diagn (Stockholm) 20:225-236.
    • (1965) Acta Radiol Diagn (Stockholm) , vol.20 , pp. 225-236
    • Rosendal, T.1
  • 29
    • 0013805851 scopus 로고
    • The maxillo-ocular syndrome
    • [in French]
    • Saraux MH, Besnainou L (1965). The maxillo-ocular syndrome [in French]. Ann Ocul 198:953-964.
    • (1965) Ann Ocul , vol.198 , pp. 953-964
    • Saraux, M.H.1    Besnainou, L.2
  • 31
    • 0028528390 scopus 로고
    • Familial hemifacial microsomia due to autosomal dominant inheritance. Case Reports
    • Singer SL, Haan E, Slee J, Goldblatt J (1994). Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports. Aust Dent J 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
  • 32
    • 0031902312 scopus 로고    scopus 로고
    • A family with dominant oculoauriculovertebral spectrum
    • Stoll C, Viville B, Treisser A, Gasser B (1998). A family with dominant oculoauriculovertebral spectrum. Am J Med Genet 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
  • 33
    • 0000617340 scopus 로고
    • Familial Goldenhar syndrome
    • Summitt R (1969). Familial Goldenhar syndrome. Birth Defects 5:106-109.
    • (1969) Birth Defects , vol.5 , pp. 106-109
    • Summitt, R.1
  • 34
    • 29544444827 scopus 로고    scopus 로고
    • Oculo-auriculo-vertebral spectrum (OAVS): Clinical evaluation and severity scoring of 53 patients and proposal for a new classification
    • Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, et al. (2005). Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 48:397-411.
    • (2005) Eur J Med Genet , vol.48 , pp. 397-411
    • Tasse, C.1    Böhringer, S.2    Fischer, S.3    Lüdecke, H.J.4    Albrecht, B.5    Horn, D.6
  • 35
    • 0006912423 scopus 로고
    • Hemifacial microsomia: Phenotypic classification, clinical implications and genetic aspects
    • Harvold EP, editor New York: Alan R Liss
    • Tenconi R, Hall BD (1983). Hemifacial microsomia: phenotypic classification, clinical implications and genetic aspects. In: Harvold EP, editor. Treatment of hemifacial microsomia. New York: Alan R Liss. pp. 39-49.
    • (1983) Treatment of Hemifacial Microsomia , pp. 39-49
    • Tenconi, R.1    Hall, B.D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.