메뉴 건너뛰기




Volumn 19, Issue , 2011, Pages 67-88

Apert, crouzon, and pfeiffer syndromes

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84866094130     PISSN: 00770876     EISSN: 16623835     Source Type: Book Series    
DOI: 10.1159/000320211     Document Type: Article
Times cited : (6)

References (60)
  • 1
    • 0005716823 scopus 로고    scopus 로고
    • Apert syndrome
    • Cohen MM Jr, MacLean RE eds:, ch 24, Oxford University Press, New York
    • Cohen MM Jr: Apert syndrome; in Cohen MM Jr, MacLean RE (eds): Craniosynostosis: Diagnosis, Evaluation, and Management, ch 24, pp 316-353 (Oxford University Press, New York, 2000).
    • (2000) Craniosynostosis: Diagnosis, Evaluation, and Management , pp. 316-353
    • Cohen Jr., M.M.1
  • 2
    • 0003671450 scopus 로고    scopus 로고
    • Crouzon syndrome
    • Cohen MM Jr, MacLean RE eds:, ch 26, Oxford University Press, New York
    • Cohen MM Jr: Crouzon syndrome; in Cohen MM Jr, MacLean RE (eds): Craniosynostosis: Diagnosis, Evaluation, and Management, ch 26, pp 361-365 (Oxford University Press, New York, 2000).
    • (2000) Craniosynostosis: Diagnosis, Evaluation, and Management , pp. 361-365
    • Cohen Jr., M.M.1
  • 3
    • 0003671450 scopus 로고    scopus 로고
    • Pfeiffer syndrome
    • Cohen MM Jr, MacLean RE eds:, ch 25, Oxford University Press, New York
    • Cohen MM Jr: Pfeiffer syndrome; in Cohen MM Jr, MacLean RE (eds): Craniosynostosis: Diagnosis, Evaluation, and Management, ch 25, pp 354-360 (Oxford University Press, New York, 2000).
    • (2000) Craniosynostosis: Diagnosis, Evaluation, and Management , pp. 354-360
    • Cohen Jr., M.M.1
  • 7
    • 14044258885 scopus 로고    scopus 로고
    • FGFs/FGFRs and associated disorders
    • Epstein CJ, Erickson RP, Wynshaw-Boris A eds:, ch 33, Oxford University Press, New York
    • Cohen MM Jr: FGFs/FGFRs and associated disorders; in Epstein CJ, Erickson RP, Wynshaw-Boris A (eds): Inborn Errors of Development, ch 33, pp 380-400 (Oxford University Press, New York, 2004).
    • (2004) Inborn Errors of Development , pp. 380-400
    • Cohen Jr., M.M.1
  • 9
    • 0027385993 scopus 로고
    • Growth and development in the Apert syndrome
    • Cohen MM Jr, Kreiborg S: Growth and development in the Apert syndrome. Am J Med Genet 1993;47:617-623.
    • (1993) Am J Med Genet , vol.47 , pp. 617-623
    • Cohen Jr., M.M.1    Kreiborg, S.2
  • 12
    • 0026646704 scopus 로고
    • Upper and lower airway compromise in the Apert syndrome
    • Cohen MM Jr, Kreiborg S: Upper and lower airway compromise in the Apert syndrome. Am J Med Genet 1992;44:90-93.
    • (1992) Am J Med Genet , vol.44 , pp. 90-93
    • Cohen Jr., M.M.1    Kreiborg, S.2
  • 14
    • 68249087222 scopus 로고    scopus 로고
    • Cloverleaf skulls: Etiologic heterogeneity and pathogenetic variability
    • Cohen MM Jr: Cloverleaf skulls: Etiologic heterogeneity and pathogenetic variability. J Craniofac Surg 2009;20:652-656.
    • (2009) J Craniofac Surg , vol.20 , pp. 652-656
    • Cohen Jr., M.M.1
  • 18
    • 0029927959 scopus 로고
    • Skull base and calvarial deformities: Association with intracranial changes in craniofacial syndromes
    • Tokumara AM, Barkovich J, Ciricillo SF, Edwards M S B: Skull base and calvarial deformities: Association with intracranial changes in craniofacial syndromes. Am J Neuroradiol 1966;17:619-630.
    • (1966) Am J Neuroradiol , vol.17 , pp. 619-630
    • Tokumara, A.M.1    Barkovich, J.2    Ciricillo, S.F.3    Edwards, M.S.B.4
  • 20
    • 0015061338 scopus 로고
    • The concurrence of hydrocephalus and craniosynostosis
    • Fishman MA, Hogan GR, Dodge PR: The concurrence of hydrocephalus and craniosynostosis. J Neurosurg 1971;34:621-629.
    • (1971) J Neurosurg , vol.34 , pp. 621-629
    • Fishman, M.A.1    Hogan, G.R.2    Dodge, P.R.3
  • 21
    • 0015151451 scopus 로고
    • Hydrocephalus in Apert's syndrome
    • Hogan GR, Bauman ML: Hydrocephalus in Apert's syndrome. J Pediatr 1971;79:782-787.
    • (1971) J Pediatr , vol.79 , pp. 782-787
    • Hogan, G.R.1    Bauman, M.L.2
  • 22
    • 26044483012 scopus 로고    scopus 로고
    • Hydrocephalus in craniosynostosis: A review
    • DOI 10.1007/s00381-004-1116-y
    • Collmann H, Sörensen N, Krauss J: Hydrocephalus in craniosynostosis: A review. Childs Nerv Syst 2005;21:902-912. (Pubitemid 41403533)
    • (2005) Child's Nervous System , vol.21 , Issue.10 , pp. 902-912
    • Collmann, H.1    Sorensen, N.2    Krauss, J.3
  • 26
    • 0029101376 scopus 로고
    • Chronic tonsillar herniation in Crouzon's and Apert's syndrome: The role of premature synostosis of the lambdoid suture
    • Cinalli G, Renier D, Sebag G, Sainte-Rose C, Arnaud E, Pierre-Kahn A: Chronic tonsillar herniation in Crouzon's and Apert's syndrome: The role of premature synostosis of the lambdoid suture. J Neurosurg 1995;83:575-582.
    • (1995) J Neurosurg , vol.83 , pp. 575-582
    • Cinalli, G.1    Renier, D.2    Sebag, G.3    Sainte-Rose, C.4    Arnaud, E.5    Pierre-Kahn, A.6
  • 27
    • 0022972508 scopus 로고
    • A psychiatric profile before and after reconstructive surgery in children with Apert's syndrome
    • DOI 10.1016/0007-1226(86)90122-0
    • Lefèbvre A, Travis F, Arndt EM, Munro IR: A psychiatric profile before and after reconstructive surgery in children with Apert's syndrome. Br J Plast Surg 1986;39:510-513. (Pubitemid 17205641)
    • (1986) British Journal of Plastic Surgery , vol.39 , Issue.4 , pp. 510-513
    • Lefebvre, A.1    Travis, F.2    Arndt, E.M.3    Munro, I.R.4
  • 28
    • 0029877871 scopus 로고    scopus 로고
    • Suture formation, premature sutural fusion, and suture default zones in Apert syndrome
    • Cohen MM Jr, Kreiborg S: Suture formation, premature sutural fusion, and suture default zones in Apert syndrome. Am J Med Genet 1996;62:339-344.
    • (1996) Am J Med Genet , vol.62 , pp. 339-344
    • Cohen Jr., M.M.1    Kreiborg, S.2
  • 29
    • 0025669023 scopus 로고
    • Characteristics of the infant Apert skull and its subsequent development
    • Kreiborg S, Cohen MM Jr: Characteristics of the infant Apert skull and its subsequent development. J Craniofac J Dev Biol 1990;10:399-410.
    • (1990) J Craniofac J Dev Biol , vol.10 , pp. 399-410
    • Kreiborg, S.1    Cohen Jr., M.M.2
  • 32
    • 77957333757 scopus 로고    scopus 로고
    • Ocular manifestations of Apert and Crouzon syndromes: Qualitative and quantitative findings
    • Kreiborg S, Cohen MM Jr: Ocular manifestations of Apert and Crouzon syndromes: Qualitative and quantitative findings. J Craniofac Surg 2010;21:1354-1357.
    • (2010) J Craniofac Surg , vol.21 , pp. 1354-1357
    • Kreiborg, S.1    Cohen Jr., M.M.2
  • 34
    • 64549143408 scopus 로고    scopus 로고
    • Inner ear anomalies and conductive hearing loss in children with Apert syndrome: An overlooked otologic aspect
    • Zhou G, Schwartz LT, Gopen Q: Inner ear anomalies and conductive hearing loss in children with Apert syndrome: An overlooked otologic aspect. Otol Neurotol 2009;30:184-189.
    • (2009) Otol Neurotol , vol.30 , pp. 184-189
    • Zhou, G.1    Schwartz, L.T.2    Gopen, Q.3
  • 36
    • 0029026419 scopus 로고
    • Hands and feet in the Apert syndrome
    • Cohen MM Jr, Kreiborg S: Hands and feet in the Apert syndrome. Am J Med Genet 1995;57:82-96.
    • (1995) Am J Med Genet , vol.57 , pp. 82-96
    • Cohen Jr., M.M.1    Kreiborg, S.2
  • 37
    • 0029655164 scopus 로고
    • Cutaneous manifestations of the Apert syndrome
    • Cohen MM Jr, Kreiborg S: Cutaneous manifestations of the Apert syndrome. Am J Med Genet 1995;58:94-96.
    • (1995) Am J Med Genet , vol.58 , pp. 94-96
    • Cohen Jr., M.M.1    Kreiborg, S.2
  • 39
    • 0028798546 scopus 로고
    • Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
    • Wilkie A O M, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, et al: Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995;9:165-172.
    • (1995) Nat Genet , vol.9 , pp. 165-172
    • Wilkie, A.O.M.1    Slaney, S.F.2    Oldridge, M.3    Poole, M.D.4    Ashworth, G.J.5
  • 41
    • 0037158283 scopus 로고    scopus 로고
    • Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2 [2]
    • DOI 10.1002/ajmg.10486
    • Wilkie A O M: Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2. Am J Med Genet 2002;111:105. (Pubitemid 34761591)
    • (2002) American Journal of Medical Genetics , vol.111 , Issue.1 , pp. 105
    • Wilkie, A.O.M.1
  • 43
    • 0042490798 scopus 로고    scopus 로고
    • Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
    • DOI 10.1126/science.1085710
    • Goriely A, McVean G A T, Röjmyr M, Ingemarsson B, Wilkie A O M: Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science 2003;301:643-646. (Pubitemid 36927947)
    • (2003) Science , vol.301 , Issue.5633 , pp. 643-646
    • Goriely, A.1    McVean, G.A.T.2    Rojmyr, M.3    Ingemarsson, B.4    Wilkie, A.O.M.5
  • 44
    • 0019757241 scopus 로고
    • Crouzon syndrome. A clinical and roentgencephalometric study
    • Kreiborg S: Crouzon syndrome. A clinical and roentgencephalometric study. Scand J Plast Reconstr Surg Hand Surg 1981; (suppl 18):1-198.
    • (1981) Scand J Plast Reconstr Surg Hand Surg , Issue.SUPPL. 18 , pp. 1-198
    • Kreiborg, S.1
  • 45
    • 0009928191 scopus 로고
    • Heredity, craniofacial dysostosis, or Crouzon disease
    • Atkinson F R B: Heredity, craniofacial dysostosis, or Crouzon disease. Méd Press Circular 1937;195:118-124.
    • (1937) Méd Press Circular , vol.195 , pp. 118-124
    • Atkinson, F.R.B.1
  • 46
    • 1842523864 scopus 로고
    • Craniofacial dysostosis of Crouzon: A case report and pedigree with emphasis on heredity
    • Shiller G: Craniofacial dysostosis of Crouzon: A case report and pedigree with emphasis on heredity. Pediatrics 1959;23:107-112.
    • (1959) Pediatrics , vol.23 , pp. 107-112
    • Shiller, G.1
  • 47
    • 0033772008 scopus 로고    scopus 로고
    • Prominent basal emissary foramina in craniosynostosis
    • Robson CD, Mulliken JB: Prominent basal emissary foramina in craniosynostosis. Am J Neuroradiology 2000;21:1707-1717.
    • (2000) Am J Neuroradiology , vol.21 , pp. 1707-1717
    • Robson, C.D.1    Mulliken, J.B.2
  • 48
    • 0000673521 scopus 로고    scopus 로고
    • Postnatal growth and development of the craniofacial complex in premature craniosynostosis
    • ch 13, Oxford University Press, New York, Cohen MM Jr, MacLean RE
    • Kreiborg S: Postnatal growth and development of the craniofacial complex in premature craniosynostosis, in Cohen MM Jr, MacLean RE (eds): Craniosynostosis: Diagnosis, Evaluation, and Management, ch 13, pp 158-174 (Oxford University Press, New York, 2000).
    • (2000) Craniosynostosis: Diagnosis, Evaluation, and Management , pp. 158-174
    • Kreiborg, S.1
  • 51
    • 0033531968 scopus 로고    scopus 로고
    • Let's call it 'Crouzondermoskeletal syndrome' so we won't be prisoners of our own conventional terminology
    • Cohen MM Jr: Let's call it 'Crouzondermoskeletal syndrome' so we won't be prisoners of our own conventional terminology. Am J Med Genet 1999;84:74.
    • (1999) Am J Med Genet , vol.84 , pp. 74
    • Cohen Jr., M.M.1
  • 52
    • 0027476349 scopus 로고
    • Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
    • DOI 10.1002/ajmg.1320450305
    • Cohen MM Jr: Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 1993;45:300-307. (Pubitemid 23033144)
    • (1993) American Journal of Medical Genetics , vol.45 , Issue.3 , pp. 300-307
    • Cohen Jr., M.M.1
  • 55
    • 0028046606 scopus 로고
    • A common mutation in the fibroblast growth factor 1 gene in Pfeiffer syndrome
    • Muenke M, Schell T, Hehr A, Robin NH, Losken HW, et al: A common mutation in the fibroblast growth factor 1 gene in Pfeiffer syndrome. Nat Genet 1994;8:269-273.
    • (1994) Nat Genet , vol.8 , pp. 269-273
    • Muenke, M.1    Schell, T.2    Hehr, A.3    Robin, N.H.4    Losken, H.W.5
  • 57
    • 0032992570 scopus 로고    scopus 로고
    • Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome
    • DOI 10.1007/s004390050979
    • Cornejo-Roldan LR, Roessler E, Muenke M: Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet 1999;104:425-431. (Pubitemid 29286801)
    • (1999) Human Genetics , vol.104 , Issue.5 , pp. 425-431
    • Cornejo-Roldan, L.R.1    Roessler, E.2    Muenke, M.3
  • 58
    • 0031559395 scopus 로고    scopus 로고
    • Pfeiffer syndrome in an Apert patient: How wide is the spectrum of variability due to mutations in the FGFR2 gene?
    • Passos-Bueno MR, Sertié AL, Zatz M, Richieri-Costa A: Pfeiffer syndrome in an Apert patient: How wide is the spectrum of variability due to mutations in the FGFR2 gene? Am J Med Genet 1997;71:243-245.
    • (1997) Am J Med Genet , vol.71 , pp. 243-245
    • Passos-Bueno, M.R.1    Sertié, A.L.2    Zatz, M.3    Richieri-Costa, A.4
  • 59
  • 60
    • 0029671080 scopus 로고    scopus 로고
    • FGFR2 exon IIIa and IIIc mutations in Crouzon syndrome, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing
    • Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, et al: FGFR2 exon IIIa and IIIc mutations in Crouzon syndrome, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet 1996;58:491-498.
    • (1996) Am J Hum Genet , vol.58 , pp. 491-498
    • Meyers, G.A.1    Day, D.2    Goldberg, R.3    Daentl, D.L.4    Przylepa, K.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.