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Volumn 21, Issue 11, 2005, Pages 955-959

Familial Chiari type I malformation with syringomyelia in two siblings: Case report and review of the literature

Author keywords

Chiari type I malformation; Familial aggregation; Genetic basis; Syringomyelia

Indexed keywords

ADOLESCENT; ARNOLD CHIARI MALFORMATION; CASE REPORT; CLINICAL EXAMINATION; DECOMPRESSION SURGERY; DIAGNOSTIC IMAGING; FAMILIAL DISEASE; FEMALE; FOLLOW UP; GENETIC ASSOCIATION; HUMAN; MEDICAL LITERATURE; PATHOGENESIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; REVIEW; SCOLIOSIS; SIBLING; SYRINGOMYELIA;

EID: 27744548617     PISSN: 02567040     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00381-005-1146-0     Document Type: Review
Times cited : (28)

References (38)
  • 1
    • 10044248615 scopus 로고    scopus 로고
    • Treatment of Chiari type I malformation in patients with and without syringomyelia: A consecutive series of 66 cases
    • Article 3
    • Alzate J, Kothbauer K, Jallo G, Epstein F (2001) Treatment of Chiari type I malformation in patients with and without syringomyelia: A consecutive series of 66 cases. Neurosurg Focus 11:ARticle 3
    • (2001) Neurosurg. Focus , vol.11
    • Alzate, J.1    Kothbauer, K.2    Jallo, G.3    Epstein, F.4
  • 2
    • 0031951742 scopus 로고    scopus 로고
    • Evidence of posterior fossa hypoplasia in the familial variant of adult Chiari I malformation: Case report
    • (discussion 404)
    • Atkinson JL, Kokmen E, Miller GM (1998) Evidence of posterior fossa hypoplasia in the familial variant of adult Chiari I malformation: Case report. Neurosurgery 42:401-403 (discussion 404)
    • (1998) Neurosurgery , vol.42 , pp. 401-403
    • Atkinson, J.L.1    Kokmen, E.2    Miller, G.M.3
  • 3
    • 3042795047 scopus 로고    scopus 로고
    • Effects of surgery on the sensory deficits of syringomyelia and predictors of outcome: A long term prospective study
    • Attal N, Parker F, Tadie M, Aghakani N, Bouhassira D (2004) Effects of surgery on the sensory deficits of syringomyelia and predictors of outcome: A long term prospective study. J Neurol Neurosurg Psychiatry 75:1025-1030
    • (2004) J. Neurol. Neurosurg. Psychiatry , vol.75 , pp. 1025-1030
    • Attal, N.1    Parker, F.2    Tadie, M.3    Aghakani, N.4    Bouhassira, D.5
  • 4
    • 0025753885 scopus 로고
    • Malformations of the spinal cord in 53 patients with spina bifida studied by magnetic resonance imaging
    • Azimullah PC, Smit LM, Rietveld-Knol E, Valk J (1991) Malformations of the spinal cord in 53 patients with spina bifida studied by magnetic resonance imaging. Childs Nerv Syst 7:63-66
    • (1991) Childs Nerv. Syst. , vol.7 , pp. 63-66
    • Azimullah, P.C.1    Smit, L.M.2    Rietveld-Knol, E.3    Valk, J.4
  • 7
    • 0028952778 scopus 로고
    • Tonsillar ectopia and Chiari malformations: Monozygotic triplets. Case report
    • 1:STN:280:ByqC28rit1U%3D
    • Cavender RK, Schmidt JH III (1995) Tonsillar ectopia and Chiari malformations: Monozygotic triplets. Case report. J Neurosurg 82:497-500 1:STN:280:ByqC28rit1U%3D
    • (1995) J. Neurosurg. , vol.82 , pp. 497-500
    • Cavender, R.K.1    Schmidt III, J.H.2
  • 8
    • 34250079207 scopus 로고
    • Familial syringomyelia: Case report and review of the literature
    • Colombo A, Cislaghi MG (1993) Familial syringomyelia: Case report and review of the literature. Ital J Neurol Sci 14:637-639
    • (1993) Ital. J. Neurol. Sci. , vol.14 , pp. 637-639
    • Colombo, A.1    Cislaghi, M.G.2
  • 12
    • 0028122188 scopus 로고
    • Terminal syringohydromyelia and occult spinal dysraphism
    • 1:STN:280:ByqD3MjgtFQ%3D
    • Iskandar BJ, Oakes WJ, McLaughlin C, Osumi AK, Tien RD (1994) Terminal syringohydromyelia and occult spinal dysraphism. J Neurosurg 81:513-519 1:STN:280:ByqD3MjgtFQ%3D
    • (1994) J. Neurosurg. , vol.81 , pp. 513-519
    • Iskandar, B.J.1    Oakes, W.J.2    McLaughlin, C.3    Osumi, A.K.4    Tien, R.D.5
  • 13
    • 0022749330 scopus 로고
    • Discordant syringomyelia twins in familial syringomyelia
    • Malessa R, Jorg J (1986) Discordant syringomyelia twins in familial syringomyelia. Nervenarzt 57:422-426
    • (1986) Nervenarzt , vol.57 , pp. 422-426
    • Malessa, R.1    Jorg, J.2
  • 14
    • 0034492888 scopus 로고    scopus 로고
    • Prevalence of the Chiari/hydrosyringomyelia complex in adults with spina bifida: Preliminary results
    • McDonnell GV, McCann JP, Craig JJ, Crone M (2000) Prevalence of the Chiari/hydrosyringomyelia complex in adults with spina bifida: preliminary results. Eur J Pediatr Surg 10(Suppl 1):18-19
    • (2000) Eur. J. Pediatr. Surg. , vol.10 , Issue.SUPPL. 1 , pp. 18-19
    • McDonnell, G.V.1    McCann, J.P.2    Craig, J.J.3    Crone, M.4
  • 15
    • 0034117079 scopus 로고    scopus 로고
    • Asymptomatic Chiari type I malformations identified on magnetic resonance imaging
    • Meadows J, Kraut M, Guarnieri M, Haroun RI, Carson BS (2000) Asymptomatic Chiari type I malformations identified on magnetic resonance imaging. J Neurosurg 92:920-926
    • (2000) J. Neurosurg. , vol.92 , pp. 920-926
    • Meadows, J.1    Kraut, M.2    Guarnieri, M.3    Haroun, R.I.4    Carson, B.S.5
  • 16
    • 0035205208 scopus 로고    scopus 로고
    • Atypical hemifacial microsomia associated with Chiari I malformation and syrinx: Further evidence indicating that Chiari I malformation is a disorder of the paraaxial mesoderm. Case report and review of the literature
    • Mesiwala AH, Shaffrey CI, Gruss JS, Ellenbogen RG (2001) Atypical hemifacial microsomia associated with Chiari I malformation and syrinx: further evidence indicating that Chiari I malformation is a disorder of the paraaxial mesoderm. Case report and review of the literature. J Neurosurg 95:1034-1039
    • (2001) J. Neurosurg. , vol.95 , pp. 1034-1039
    • Mesiwala, A.H.1    Shaffrey, C.I.2    Gruss, J.S.3    Ellenbogen, R.G.4
  • 17
    • 0028911808 scopus 로고
    • Pathological basis of spinal cord cavitation in syringomyelia: Analysis of 105 autopsy cases
    • 1:STN:280:ByqB3s%2FjslU%3D
    • Milhorat TH, Capocelli AL Jr, Anzil AP, Kotzen RM, Milhorat RH (1995) Pathological basis of spinal cord cavitation in syringomyelia: Analysis of 105 autopsy cases. J Neurosurg 82:802-812 1:STN:280:ByqB3s%2FjslU%3D
    • (1995) J. Neurosurg. , vol.82 , pp. 802-812
    • Milhorat, T.H.1    Capocelli Jr., A.L.2    Anzil, A.P.3    Kotzen, R.M.4    Milhorat, R.H.5
  • 18
    • 0032907185 scopus 로고    scopus 로고
    • Chiari I malformation redefined: Clinical and radiographic findings for 364 symptomatic patients
    • 10.1097/00006123-199905000-00042
    • Milhorat TH, Chou MW, Trinidad EM, Kula RW, Mandell M, Wolpert C, Speer MC (1999) Chiari I malformation redefined: Clinical and radiographic findings for 364 symptomatic patients. Neurosurgery 44:1005-1017 10.1097/ 00006123-199905000-00042
    • (1999) Neurosurgery , vol.44 , pp. 1005-1017
    • Milhorat, T.H.1    Chou, M.W.2    Trinidad, E.M.3    Kula, R.W.4    Mandell, M.5    Wolpert, C.6    Speer, M.C.7
  • 19
    • 0026774951 scopus 로고
    • Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
    • Morrison PJ, Mulholland HC, Craig BG, Nevin NC (1992) Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet 44:425-428
    • (1992) Am. J. Med. Genet. , vol.44 , pp. 425-428
    • Morrison, P.J.1    Mulholland, H.C.2    Craig, B.G.3    Nevin, N.C.4
  • 21
    • 0034888783 scopus 로고    scopus 로고
    • Incidentally identified syringomyelia associated with Chiari I malformations: Is early interventional surgery necessary?
    • (discussion 640-641)
    • Nishizawa S, Yokoyama T, Yokota N, Tokuyama T, Ohta S (2001) Incidentally identified syringomyelia associated with Chiari I malformations: Is early interventional surgery necessary? Neurosurgery 49:637-640 (discussion 640-641)
    • (2001) Neurosurgery , vol.49 , pp. 637-640
    • Nishizawa, S.1    Yokoyama, T.2    Yokota, N.3    Tokuyama, T.4    Ohta, S.5
  • 22
    • 0038015610 scopus 로고    scopus 로고
    • Scoliosis associated with syringomyelia: Clinical and radiologic correlation
    • Ozerdemoglu RA, Denis F, Transfeldt EE (2003) Scoliosis associated with syringomyelia: Clinical and radiologic correlation. Spine 28:1410-1417
    • (2003) Spine , vol.28 , pp. 1410-1417
    • Ozerdemoglu, R.A.1    Denis, F.2    Transfeldt, E.E.3
  • 23
    • 0031762291 scopus 로고    scopus 로고
    • Chiari type I malformation and syringomyelia in unrelated patients with blepharophimosis. Report of two cases
    • Paquis P, Lonjon M, Brunet M, Lambert JC, Grellier P (1998) Chiari type I malformation and syringomyelia in unrelated patients with blepharophimosis. Report of two cases. J Neurosurg 89:835-838
    • (1998) J. Neurosurg. , vol.89 , pp. 835-838
    • Paquis, P.1    Lonjon, M.2    Brunet, M.3    Lambert, J.C.4    Grellier, P.5
  • 24
    • 0015343697 scopus 로고
    • Familial basilar impression
    • Paradis RW, Sax DS (1972) Familial basilar impression. Neurology 22:554-560
    • (1972) Neurology , vol.22 , pp. 554-560
    • Paradis, R.W.1    Sax, D.S.2
  • 25
    • 0010169222 scopus 로고
    • Synringomuelia and pharomatosis. Anatomoclinical study of 2 cases of Recklinghausen's disease and 1 case of Hippel-Lindau's disease, associated with syringomyelia
    • Retif J (1964) Synringomuelia and pharomatosis. Anatomoclinical study of 2 cases of Recklinghausen's disease and 1 case of Hippel-Lindau's disease, associated with syringomyelia. Acta Neurol Belg 64:832-851
    • (1964) Acta. Neurol. Belg. , vol.64 , pp. 832-851
    • Retif, J.1
  • 26
    • 0025953360 scopus 로고
    • Magnetic resonance imaging for stenosis and subluxation in Klippel-Feil syndrome
    • Ritterbusch JF, McGinty LD, Spar J, Orrison WW (1991) Magnetic resonance imaging for stenosis and subluxation in Klippel-Feil syndrome. Spine 16:S539-S541
    • (1991) Spine , vol.16
    • Ritterbusch, J.F.1    McGinty, L.D.2    Spar, J.3    Orrison, W.W.4
  • 27
    • 0022924117 scopus 로고
    • The malformative central nervous system lesions in the central and peripheral forms of neurofibromatosis. A neuropathological study of 22 cases
    • Rubinstein LJ (1986) The malformative central nervous system lesions in the central and peripheral forms of neurofibromatosis. A neuropathological study of 22 cases. Ann NY Acad Sci 486:14-29
    • (1986) Ann. NY Acad. Sci. , vol.486 , pp. 14-29
    • Rubinstein, L.J.1
  • 31
    • 0002946914 scopus 로고
    • Developmental abnormalities in the region of the foramen magnum
    • Spillane JD, Pallis C, Jones AM (1957) Developmental abnormalities in the region of the foramen magnum. Brain 80:11-48
    • (1957) Brain , vol.80 , pp. 11-48
    • Spillane, J.D.1    Pallis, C.2    Jones, A.M.3
  • 32
    • 0026508947 scopus 로고
    • The Chiari type I malformation in two monozygotic twins and first-degree relatives
    • Stovner LJ, Cappelen J, Nilsen G, Sjaastad O (1992) The Chiari type I malformation in two monozygotic twins and first-degree relatives. Ann Neurol 31:220-222
    • (1992) Ann. Neurol. , vol.31 , pp. 220-222
    • Stovner, L.J.1    Cappelen, J.2    Nilsen, G.3    Sjaastad, O.4
  • 33
    • 0034932795 scopus 로고    scopus 로고
    • Chiari type I malformation in two monozygotic twins
    • Turgut M (2001) Chiari type I malformation in two monozygotic twins. Br J Neurosurg 15:279-280
    • (2001) Br. J. Neurosurg. , vol.15 , pp. 279-280
    • Turgut, M.1
  • 34
    • 0011547918 scopus 로고
    • Konkordante syringomyelie mit okzipito-zervikaler dysplasie bei eineiigem zwillingspaar
    • Wild H, Behnert J (1964) Konkordante syringomyelie mit okzipito-zervikaler dysplasie bei eineiigem zwillingspaar. Munch Med Wochenschr 106:1421-1428
    • (1964) Munch. Med. Wochenschr. , vol.106 , pp. 1421-1428
    • Wild, H.1    Behnert, J.2
  • 35
    • 27744551717 scopus 로고    scopus 로고
    • Genetic research for Chiari type 1 malformation and syringomyelia is well underway
    • [Online]. Available at Accessed 11 July 2004
    • Wolpert C, Drake C, Speer M (2001) Genetic research for Chiari type 1 malformation and syringomyelia is well underway, vol. 2004 [Online]. Available at http://www.asap4sm.com/wolpert_drake_speer01.html. Accessed 11 July 2004
    • (2001) , vol.2004
    • Wolpert, C.1    Drake, C.2    Speer, M.3
  • 36
    • 0036891422 scopus 로고    scopus 로고
    • Familial syringomyelia: The first Japanese case and review of the literature
    • Yabe I, Kikuchi S, Tashiro K (2002) Familial syringomyelia: The first Japanese case and review of the literature. Clin Neurol Neurosurg 105:69-71
    • (2002) Clin. Neurol. Neurosurg. , vol.105 , pp. 69-71
    • Yabe, I.1    Kikuchi, S.2    Tashiro, K.3
  • 37
    • 0020506519 scopus 로고
    • Proposal for the definition of "foramen magnum syndrome"-foramen magnum tumor and abnormalities
    • Yasuoka S, Takakura K (1983) Proposal for the definition of "foramen magnum syndrome"-foramen magnum tumor and abnormalities. No To Shinkei 35:1001-1007
    • (1983) No To Shinkei , vol.35 , pp. 1001-1007
    • Yasuoka, S.1    Takakura, K.2
  • 38
    • 0028789830 scopus 로고
    • Familial syringomyelia: Case report and review of the literature
    • Zakeri A, Glasauer FE, Egnatchik JG (1995) Familial syringomyelia: Case report and review of the literature. Surg Neurol 44:48-53
    • (1995) Surg. Neurol. , vol.44 , pp. 48-53
    • Zakeri, A.1    Glasauer, F.E.2    Egnatchik, J.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.