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Volumn 1, Issue 1, 2003, Pages 77-88

Waardenburg Syndrome

Author keywords

Craniofacial abnormalities; Hearing impairment; Phenotypes; Pigmentation defects

Indexed keywords

AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HETEROTOPIA; HIRSCHSPRUNG DISEASE; HUMAN; PERCEPTION DEAFNESS; PHENOTYPE; PIGMENT DISORDER; PRIORITY JOURNAL; REVIEW; WAARDENBURG SYNDROME;

EID: 0141802617     PISSN: 1651386X     EISSN: None     Source Type: Journal    
DOI: 10.1080/16513860310003076     Document Type: Review
Times cited : (6)

References (86)
  • 2
    • 0015020545 scopus 로고
    • Genetic heterogeneity in the Waardenburg syndrome
    • Arias S. Genetic heterogeneity in the Waardenburg syndrome. Birth Defects 1971; 7(4): 87-101.
    • (1971) Birth Defects , vol.7 , Issue.4 , pp. 87-101
    • Arias, S.1
  • 3
    • 0345484233 scopus 로고
    • Apparent non-penetrance for dystopia in Waardenburg syndrome type 1 with some hints on the diagnosis of dystopia canthorum
    • Arias S, Mota M. Apparent non-penetrance for dystopia in Waardenburg syndrome type 1 with some hints on the diagnosis of dystopia canthorum. Journal of Human Genetics 1978; 26: 101-31.
    • (1978) Journal of Human Genetics , vol.26 , pp. 101-131
    • Arias, S.1    Mota, M.2
  • 4
    • 0025188791 scopus 로고
    • Mouse and hamster mutants as models for Waardenburg syndrome in humans
    • Asher JH, Friedman TB. Mouse and hamster mutants as models for Waardenburg syndrome in humans. Journal of Medical Genetics 1990; 27: 618-26.
    • (1990) Journal of Medical Genetics , vol.27 , pp. 618-626
    • Asher, J.H.1    Friedman, T.B.2
  • 5
    • 0030030303 scopus 로고    scopus 로고
    • Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome
    • Asher JH Jr, Sommer A, Morrell R, Friedman TB. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Human Mutation 1996; 7: 30-5.
    • (1996) Human Mutation , vol.7 , pp. 30-35
    • Asher Jr., J.H.1    Sommer, A.2    Morrell, R.3    Friedman, T.B.4
  • 6
    • 0029638071 scopus 로고
    • Possible homozygous Waardenburg syndrome in a fetus with exencephaly
    • Aymé S, Philip N. Possible homozygous Waardenburg syndrome in a fetus with exencephaly. American Journal of Medical Genetics 1995; 59: 263-5.
    • (1995) American Journal of Medical Genetics , vol.59 , pp. 263-265
    • Aymé, S.1    Philip, N.2
  • 7
    • 0026584439 scopus 로고
    • An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
    • Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 1992; 355: 637-8.
    • (1992) Nature , vol.355 , pp. 637-638
    • Baldwin, C.T.1    Hoth, C.F.2    Amos, J.A.3    Da-Silva, E.O.4    Milunsky, A.5
  • 8
    • 0027717881 scopus 로고
    • Spontaneous contraction of leukodermic patches in Waardenburg syndrome
    • Chang T, Hashimoto K, Bawle EV. Spontaneous contraction of leukodermic patches in Waardenburg syndrome. Journal of Dermatology 1993; 20: 707-11.
    • (1993) Journal of Dermatology , vol.20 , pp. 707-711
    • Chang, T.1    Hashimoto, K.2    Bawle, E.V.3
  • 12
    • 0021146433 scopus 로고
    • Waardenburg syndrome in South Africa. Part 1: An evaluation of the clinical findings in 11 families
    • DeSaxe M, Kromberg JGR, Jenkins T. Waardenburg syndrome in South Africa. Part 1: An evaluation of the clinical findings in 11 families. South African Medical Journal 1984; 66: 256-61.
    • (1984) South African Medical Journal , vol.66 , pp. 256-261
    • DeSaxe, M.1    Kromberg, J.G.R.2    Jenkins, T.3
  • 16
    • 0025925068 scopus 로고
    • Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3
    • Epstein DJ, Vekemans M, Gros P. Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 1991; 67: 767-74.
    • (1991) Cell , vol.67 , pp. 767-774
    • Epstein, D.J.1    Vekemans, M.2    Gros, P.3
  • 17
    • 0026692676 scopus 로고
    • Waardenburg syndrome (WS) type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS Consortium
    • Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH, Beighton P, Diehl SR, et al. Waardenburg syndrome (WS) type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS Consortium. American Journal of Human Genetics 1992; 50: 902-13.
    • (1992) American Journal of Human Genetics , vol.50 , pp. 902-913
    • Farrer, L.A.1    Grundfast, K.M.2    Amos, J.3    Arnos, K.S.4    Asher, J.H.5    Beighton, P.6    Diehl, S.R.7
  • 20
    • 0000112325 scopus 로고
    • Aetiology of congenital deafness and audiometric patterns
    • Fisch L. Aetiology of congenital deafness and audiometric patterns. Journal of Laryngology and Otology 1955; 69: 479-93.
    • (1955) Journal of Laryngology and Otology , vol.69 , pp. 479-493
    • Fisch, L.1
  • 21
  • 22
    • 0025279087 scopus 로고
    • Assignment of WS1 locus to human 2q37 and possible homology between Waardenburg syndrome and the Splotch mouse
    • Foy C, Newton VE, Wellesley D, Harris R, Read AP. Assignment of WS1 locus to human 2q37 and possible homology between Waardenburg syndrome and the Splotch mouse. American Journal of Human Genetics 1990; 46: 1017-23.
    • (1990) American Journal of Human Genetics , vol.46 , pp. 1017-1023
    • Foy, C.1    Newton, V.E.2    Wellesley, D.3    Harris, R.4    Read, A.P.5
  • 26
    • 0014002306 scopus 로고
    • Waardenburg's syndrome with fundus and other anomalies
    • Goldberg MF. Waardenburg's syndrome with fundus and other anomalies. Archives of Ophthalmology 1966; 76: 797-810.
    • (1966) Archives of Ophthalmology , vol.76 , pp. 797-810
    • Goldberg, M.F.1
  • 28
  • 30
    • 0017751533 scopus 로고
    • Vestibular findings in 25 patients with Waardenburg's syndrome
    • Hageman, Oosterveld. Vestibular findings in 25 patients with Waardenburg's syndrome. Archives of Otolaryngology 1977; 103: 648-52.
    • (1977) Archives of Otolaryngology , vol.103 , pp. 648-652
    • Hageman, O.1
  • 32
    • 0024792451 scopus 로고
    • Auditory and vestibular findings in Waardenburg Type 11 syndrome
    • Hildesheimer MZ. Auditory and vestibular findings in Waardenburg Type 11 syndrome. Journal of Laryngology and Otology 1989; 103: 1130-3.
    • (1989) Journal of Laryngology and Otology , vol.103 , pp. 1130-1133
    • Hildesheimer, M.Z.1
  • 34
    • 0027439075 scopus 로고
    • Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-111) as well as Waardenburg syndrome type 1 (WS-1)
    • Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-111) as well as Waardenburg syndrome type 1 (WS-1). American Journal of Human Genetics 1993; 52: 455-62.
    • (1993) American Journal of Human Genetics , vol.52 , pp. 455-462
    • Hoth, C.F.1    Milunsky, A.2    Lipsky, N.3    Sheffer, R.4    Clarren, S.K.5    Baldwin, C.T.6
  • 35
    • 0027966022 scopus 로고
    • A gene for Waardenburg syndrome Type 2 maps close to MITF, the human homologue of the mouse microphthalmia gene, at chromosomal location 3p12-p14.1
    • Hughes A, Newton VE, Liu XZ, Read AP. A gene for Waardenburg syndrome Type 2 maps close to MITF, the human homologue of the mouse microphthalmia gene, at chromosomal location 3p12-p14.1. Nature Genetics 1994; 7: 509-513.
    • (1994) Nature Genetics , vol.7 , pp. 509-513
    • Hughes, A.1    Newton, V.E.2    Liu, X.Z.3    Read, A.P.4
  • 37
    • 0025313961 scopus 로고
    • CT findings of the temporal bones in Waardenburg's syndrome
    • Abstract
    • Irie K, Ogata H, Mitsudome. CT findings of the temporal bones in Waardenburg's syndrome. Abstract. No To Hattatsu 1990; 22: 241-6.
    • (1990) No to Hattatsu , vol.22 , pp. 241-246
    • Irie, K.1    Ogata, H.2    Mitsudome3
  • 39
    • 0002329339 scopus 로고
    • Malformations of the inner ear in deaf children. A tomographic and clinical study
    • Stockholm
    • Jensen J. Malformations of the inner ear in deaf children. A tomographic and clinical study. Acta Radiologica Supplementum 286. Stockholm 1969, pp. 60.
    • (1969) Acta Radiologica Supplementum 286 , pp. 60
    • Jensen, J.1
  • 40
    • 84956899880 scopus 로고
    • Albinisme partiel(leucisme) accompagné de surdimutité, d'osteomyodysplasie, de raideurs articulaires congenitales multiples et d'autres malformations congenitales
    • Klein D. Albinisme partiel(leucisme) accompagné de surdimutité, d'osteomyodysplasie, de raideurs articulaires congenitales multiples et d'autres malformations congenitales. Arch Julius Klaus Stift Vererbungen-forsch 1947; 22: 336-42.
    • (1947) Arch Julius Klaus Stift Vererbungen-forsch , vol.22 , pp. 336-342
    • Klein, D.1
  • 41
    • 0020694438 scopus 로고
    • Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type 111)
    • Klein D. Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type 111). American Journal of Medical Genetics 1983; 14: 231-9.
    • (1983) American Journal of Medical Genetics , vol.14 , pp. 231-239
    • Klein, D.1
  • 45
    • 0028908831 scopus 로고
    • Waardenburg syndrome type 2: Phenotypic findings and diagnostic criteria
    • Liu XZ, Newton VE, Read AP. Waardenburg syndrome type 2: phenotypic findings and diagnostic criteria. American Journal of Medical Genetics 1995a; 55: 95-100.
    • (1995) American Journal of Medical Genetics , vol.55 , pp. 95-100
    • Liu, X.Z.1    Newton, V.E.2    Read, A.P.3
  • 46
    • 0028906875 scopus 로고
    • Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS Type 2
    • Liu XZ, Newton VE, Read AP. Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS Type 2. The Journal of Laryngology and Otology 1995b; 109: 96-100.
    • (1995) The Journal of Laryngology and Otology , vol.109 , pp. 96-100
    • Liu, X.Z.1    Newton, V.E.2    Read, A.P.3
  • 47
    • 8044260809 scopus 로고    scopus 로고
    • Distortion products in normal-hearing and low frequency hearing loss carriers of genes for Waardenburg syndrome
    • Liu XZ, Newton VE. Distortion products in normal-hearing and low frequency hearing loss carriers of genes for Waardenburg syndrome. Annals of Otology, Rhinology and Laryngology 1997; 106: 220-5.
    • (1997) Annals of Otology, Rhinology and Laryngology , vol.106 , pp. 220-225
    • Liu, X.Z.1    Newton, V.E.2
  • 48
    • 17044442964 scopus 로고
    • Vestibular function and additional findings in Waardenburg syndrome
    • Marcus RE. Vestibular function and additional findings in Waardenburg syndrome. Acta Otolaryngologica 1968; 229: 1-30.
    • (1968) Acta Otolaryngologica , vol.229 , pp. 1-30
    • Marcus, R.E.1
  • 50
    • 0026539239 scopus 로고
    • Splotch locus mouse mutants: Model for neural tube defects and Waardenburg syndrome type 1 in humans
    • Moase CE, Trasler DG. Splotch locus mouse mutants: model for neural tube defects and Waardenburg syndrome type 1 in humans. Journal of Medical Genetics 1992; 29: 145-51.
    • (1992) Journal of Medical Genetics , vol.29 , pp. 145-151
    • Moase, C.E.1    Trasler, D.G.2
  • 52
    • 0028789866 scopus 로고
    • Insight into the microphthalmia gene
    • Moore KJ. Insight into the microphthalmia gene. Trends in Genetics 1995; 11: 442-8.
    • (1995) Trends in Genetics , vol.11 , pp. 442-448
    • Moore, K.J.1
  • 53
    • 0031872623 scopus 로고    scopus 로고
    • Clinical and morphological features of Waardenburg syndrome type 11
    • Mullaney PB, Parsons MA, Weatherhead RG, Karcioglu ZA. Clinical and morphological features of Waardenburg syndrome type 11. Eye 1998; 12: 353-57.
    • (1998) Eye , vol.12 , pp. 353-357
    • Mullaney, P.B.1    Parsons, M.A.2    Weatherhead, R.G.3    Karcioglu, Z.A.4
  • 54
    • 0026755350 scopus 로고
    • Temporal bone histopathologic findings of Waardenburg syndrome: A case report
    • Nakashima S, Sando I, Takahashi H, Hashida Y. Temporal bone histopathologic findings of Waardenburg syndrome: a case report. Laryngoscope 1992; 102(5): 563-7.
    • (1992) Laryngoscope , vol.102 , Issue.5 , pp. 563-567
    • Nakashima, S.1    Sando, I.2    Takahashi, H.3    Hashida, Y.4
  • 56
    • 0024786322 scopus 로고
    • Waardenburg syndrome: A comparison of biometric indices used to diagnose lateral displacement of the inner canthi
    • Newton VE. Waardenburg syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. Scandinavian Audiology 1989; 18: 221-3.
    • (1989) Scandinavian Audiology , vol.18 , pp. 221-223
    • Newton, V.E.1
  • 57
    • 0025099433 scopus 로고
    • Hearing loss and Waardenburg syndrome: Implications for genetic counselling
    • Newton VE. Hearing loss and Waardenburg syndrome: implications for genetic counselling. The Journal of Laryngology and Otology 1990; 104: 97-103.
    • (1990) The Journal of Laryngology and Otology , vol.104 , pp. 97-103
    • Newton, V.E.1
  • 58
    • 0027937526 scopus 로고
    • The association of sensorineural hearing loss and pigmentation abnormalities in Waardenburg Syndrome
    • Newton VE, Liu X, Read AP. The association of sensorineural hearing loss and pigmentation abnormalities in Waardenburg Syndrome. Journal of Audiological Medicine 1994; 3: 69-77.
    • (1994) Journal of Audiological Medicine , vol.3 , pp. 69-77
    • Newton, V.E.1    Liu, X.2    Read, A.P.3
  • 61
    • 73049145061 scopus 로고
    • Contributo alla conoscenza della sindrome de Waardenburg e Klein
    • Pirodda A, Bonomi L, Cricchi M, Poxeddu P. Contributo alla conoscenza della sindrome de Waardenburg e Klein. Annals of Otology 1961; 87: 401-26.
    • (1961) Annals of Otology , vol.87 , pp. 401-426
    • Pirodda, A.1    Bonomi, L.2    Cricchi, M.3    Poxeddu, P.4
  • 64
    • 0021742475 scopus 로고
    • Inner ear anomalies in Waardenburg syndrome associated with Hirschprung's disease
    • Rarey KE, Davis LE. Inner ear anomalies in Waardenburg syndrome associated with Hirschprung's disease. International Journal of Pediatric Otorhinolaryngology 1984; 8(2): 181-9.
    • (1984) International Journal of Pediatric Otorhinolaryngology , vol.8 , Issue.2 , pp. 181-189
    • Rarey, K.E.1    Davis, L.E.2
  • 69
    • 1842448136 scopus 로고
    • Waardenburg's syndrome: Report of a case in a non-Dutch family
    • Settlemayer JR, Hogan M. Waardenburg's syndrome: report of a case in a non-Dutch family. New England Journal of Medicine 1961; 264: 500-1.
    • (1961) New England Journal of Medicine , vol.264 , pp. 500-501
    • Settlemayer, J.R.1    Hogan, M.2
  • 70
    • 0019406679 scopus 로고
    • White forelock, pigmentary disorder of the irides and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome
    • Shah KN, Dalal SJ, Sheth PN, Joshi NC, Ambani LM. White forelock, pigmentary disorder of the irides and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. Journal of Pediatrics 1981; 99: 432.
    • (1981) Journal of Pediatrics , vol.99 , pp. 432
    • Shah, K.N.1    Dalal, S.J.2    Sheth, P.N.3    Joshi, N.C.4    Ambani, L.M.5
  • 72
    • 0016184543 scopus 로고
    • Analysis for possible linkage between the loci for Waardenburg syndrome and various blood group and serological traits
    • Simpson JL, Falk CT, Morillo-Cucci G, Allen FH, German J. Analysis for possible linkage between the loci for Waardenburg syndrome and various blood group and serological traits. Humangenetik 1974; 23: 45-50.
    • (1974) Humangenetik , vol.23 , pp. 45-50
    • Simpson, J.L.1    Falk, C.T.2    Morillo-Cucci, G.3    Allen, F.H.4    German, J.5
  • 74
    • 0024314157 scopus 로고
    • Another role for melanocytes: Their importance for normal stria vascularis development in the mammalian inner ear
    • Steel KP, Barkway C. Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear. Development 1989; 107: 453-63.
    • (1989) Development , vol.107 , pp. 453-463
    • Steel, K.P.1    Barkway, C.2
  • 75
    • 0026921154 scopus 로고
    • Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome Type 1
    • Steel KP, Smith RJH. Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome Type 1. Nature Genetics 1992; 2: 75-9.
    • (1992) Nature Genetics , vol.2 , pp. 75-79
    • Steel, K.P.1    Smith, R.J.H.2
  • 76
    • 0012054623 scopus 로고
    • A deafmute with two congenital syndromes
    • Stoller FM. A deafmute with two congenital syndromes. Archives of Otolaryngology 1962; 76: 42-6.
    • (1962) Archives of Otolaryngology , vol.76 , pp. 42-46
    • Stoller, F.M.1
  • 78
    • 0026602124 scopus 로고
    • Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
    • Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T. Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992; 355: 635-6.
    • (1992) Nature , vol.355 , pp. 635-636
    • Tassabehji, M.1    Read, A.P.2    Newton, V.E.3    Harris, R.4    Balling, R.5    Gruss, P.6    Strachan, T.7
  • 79
    • 0027943189 scopus 로고
    • MITF gene mutations causing Type 2 Waardenburg Syndrome
    • Tassabehji M, Newton VE, Read AP. MITF gene mutations causing Type 2 Waardenburg Syndrome. Nature Genetics 1994; 8: 251-5.
    • (1994) Nature Genetics , vol.8 , pp. 251-255
    • Tassabehji, M.1    Newton, V.E.2    Read, A.P.3
  • 82
    • 76949125703 scopus 로고
    • A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness
    • Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. American Journal of Human Genetics 1951; 3: 195-253.
    • (1951) American Journal of Human Genetics , vol.3 , pp. 195-253
    • Waardenburg, P.J.1
  • 84
    • 1842448138 scopus 로고
    • Doofstomme Kinderen met het Syndroom van Waardenburg-Klein
    • Wildervanck. Doofstomme Kinderen met het Syndroom van Waardenburg-Klein. Nederlandsch Tijdschrft voor Geneeskunde 1957; 101: 1120-1.
    • (1957) Nederlandsch Tijdschrft voor Geneeskunde , vol.101 , pp. 1120-1121
    • Wildervanck1


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