메뉴 건너뛰기




Volumn 143, Issue 12, 2007, Pages 1326-1333

Associations of osseous abnormalities in neurofibromatosis

Author keywords

Neurofibromatosis 1; NF1; Osteopathy; Short stature; Sphenoid wing; Tibia; Vertebrae

Indexed keywords

ARTICLE; BONE DISEASE; CHILD; DISEASE ASSOCIATION; FEMALE; FIBULA; HUMAN; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; NEUROFIBROMATOSIS; PRIORITY JOURNAL; SHORT STATURE; SPHENOID; TIBIA; VERTEBRA;

EID: 34249867658     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31754     Document Type: Article
Times cited : (37)

References (57)
  • 1
    • 0020372136 scopus 로고
    • Congenital pseuclarthrosis of the ulna due to Neurofibromatosis
    • Ali MS, Hooper G. 1982. Congenital pseuclarthrosis of the ulna due to Neurofibromatosis. J Bone Joint Surg 64:600-602.
    • (1982) J Bone Joint Surg , vol.64 , pp. 600-602
    • Ali, M.S.1    Hooper, G.2
  • 2
    • 17644388078 scopus 로고    scopus 로고
    • Is osseous dysplasia a primary feature of Neurofibromatosis 1 (NF1)?
    • Alwan S, Tredwell SJ, Friedman JM. 2005. Is osseous dysplasia a primary feature of Neurofibromatosis 1 (NF1)? Clin Genet 67: 378-390.
    • (2005) Clin Genet , vol.67 , pp. 378-390
    • Alwan, S.1    Tredwell, S.J.2    Friedman, J.M.3
  • 3
    • 0014841634 scopus 로고
    • Multivariate probil analysis
    • Ashford J, Sowden R. 1970. Multivariate probil analysis. Biometrics 26:535-546.
    • (1970) Biometrics , vol.26 , pp. 535-546
    • Ashford, J.1    Sowden, R.2
  • 4
    • 0026519987 scopus 로고
    • Neurofibromatosis with dural ectasia and bilateral symmetrical pedicular clefts: Report of two cases
    • Bensaid AH, Dietemann JL, Kastler B, Gangi A, Jeung MY, Wackenheim A. 1992. Neurofibromatosis with dural ectasia and bilateral symmetrical pedicular clefts: Report of two cases. Neuroradiology 34:107-109.
    • (1992) Neuroradiology , vol.34 , pp. 107-109
    • Bensaid, A.H.1    Dietemann, J.L.2    Kastler, B.3    Gangi, A.4    Jeung, M.Y.5    Wackenheim, A.6
  • 7
    • 0020085659 scopus 로고
    • Pathology and natural history of congenital pseudarthrosis of the tibia
    • Boyd HB. 1982. Pathology and natural history of congenital pseudarthrosis of the tibia. Clin Orthop 166:5-13.
    • (1982) Clin Orthop , vol.166 , pp. 5-13
    • Boyd, H.B.1
  • 8
    • 17644419809 scopus 로고    scopus 로고
    • Generalized osteopenia in Neurofibromatosis Type 1 patients points to an underlying disorder of skeletal homeostatis and mineralization
    • Brunetti-Pierri N, Phan K, Carter S, Lewis RA, Plon S, Ellis KJ, O'Briann SE, Lee B. 2003. Generalized osteopenia in Neurofibromatosis Type 1 patients points to an underlying disorder of skeletal homeostatis and mineralization. Am J Hum Genet 73(Supplement):261.
    • (2003) Am J Hum Genet , vol.73 , Issue.SUPPL.EMENT , pp. 261
    • Brunetti-Pierri, N.1    Phan, K.2    Carter, S.3    Lewis, R.A.4    Plon, S.5    Ellis, K.J.6    O'Briann, S.E.7    Lee, B.8
  • 9
    • 34249894878 scopus 로고    scopus 로고
    • Radiographic characteristics of lower-extremity bowing in children
    • Cheema J, Grissom LE, Harcke HT. 2003. Radiographic characteristics of lower-extremity bowing in children. Radiographics 112:289-297.
    • (2003) Radiographics , vol.112 , pp. 289-297
    • Cheema, J.1    Grissom, L.E.2    Harcke, H.T.3
  • 10
    • 0031802686 scopus 로고    scopus 로고
    • Neurofibromatosis of the orbit and skull base
    • Clauser L, Carniei F, Galie M. 1998. Neurofibromatosis of the orbit and skull base. J Craniofac Surg 9:280-284.
    • (1998) J Craniofac Surg , vol.9 , pp. 280-284
    • Clauser, L.1    Carniei, F.2    Galie, M.3
  • 12
    • 0022658223 scopus 로고
    • Osseous manifestations of Neurofibromatosis in childhood
    • Crawford AH, Bagamery N. 1986. Osseous manifestations of Neurofibromatosis in childhood. J Pediatr Orthop 6:72-88.
    • (1986) J Pediatr Orthop , vol.6 , pp. 72-88
    • Crawford, A.H.1    Bagamery, N.2
  • 13
    • 0033160526 scopus 로고    scopus 로고
    • Neurofibromatosis in children: The role of the orthopaedist
    • Crawford AH, Schorry EK. 1999. Neurofibromatosis in children: The role of the orthopaedist. J Am Acad Orthop Surg 7:217-230.
    • (1999) J Am Acad Orthop Surg , vol.7 , pp. 217-230
    • Crawford, A.H.1    Schorry, E.K.2
  • 14
    • 0034094731 scopus 로고    scopus 로고
    • Use of the National Institutes of Health Criteria for diagnosis of Neurofibromatosis 1 in children
    • DeBella K, Szudek J, Friedman JM. 2000. Use of the National Institutes of Health Criteria for diagnosis of Neurofibromatosis 1 in children. Pediatrics 105:608-614.
    • (2000) Pediatrics , vol.105 , pp. 608-614
    • DeBella, K.1    Szudek, J.2    Friedman, J.M.3
  • 15
    • 0028953462 scopus 로고
    • Giant lumbar meningocele in a patient with Neurofibromatosis
    • Drevelengas A, Kalaitzoglou I. 1995. Giant lumbar meningocele in a patient with Neurofibromatosis. Neuroradiology 37:195-197.
    • (1995) Neuroradiology , vol.37 , pp. 195-197
    • Drevelengas, A.1    Kalaitzoglou, I.2
  • 17
    • 0027379865 scopus 로고
    • An analysis of variation in expression of Neurofibromatosis (NF) type 1 (NF1): Evidence for modifying genes
    • Easton DF, Ponder MA, Huson SM, Ponder BA. 1993. An analysis of variation in expression of Neurofibromatosis (NF) type 1 (NF1): Evidence for modifying genes. Am J Hum Genet 53:305-313.
    • (1993) Am J Hum Genet , vol.53 , pp. 305-313
    • Easton, D.F.1    Ponder, M.A.2    Huson, S.M.3    Ponder, B.A.4
  • 19
    • 0023204417 scopus 로고
    • The elephant woman. Neurofibromatosis associated with pseudarthrosis of the humerus
    • Floyd A, Percy-Lancaster R. 1987. The elephant woman. Neurofibromatosis associated with pseudarthrosis of the humerus. J Bone Joint Surg 69:121-123.
    • (1987) J Bone Joint Surg , vol.69 , pp. 121-123
    • Floyd, A.1    Percy-Lancaster, R.2
  • 20
    • 0033605484 scopus 로고    scopus 로고
    • Epidemiology of Neurofibromatosis Type 1
    • Friedman JM. 1999. Epidemiology of Neurofibromatosis Type 1. Am J Med Genet 89:1-6.
    • (1999) Am J Med Genet , vol.89 , pp. 1-6
    • Friedman, J.M.1
  • 21
    • 0030966414 scopus 로고    scopus 로고
    • Type 1 Neurofibromatosis: A descriptive analysis of the disorder in 1,728 Patients
    • Friedman JM, Birch PH. 1997. Type 1 Neurofibromatosis: A descriptive analysis of the disorder in 1,728 Patients. Am J Med Genet 70:138-143.
    • (1997) Am J Med Genet , vol.70 , pp. 138-143
    • Friedman, J.M.1    Birch, P.H.2
  • 22
    • 0002321373 scopus 로고    scopus 로고
    • Clinical and epidemiological features
    • Friedman JM, Gutmann D, MacCollin M, Riccardi VM, editors, Baltimore: Johns Hopkins University Press, p
    • Friedman JM, Riccardi VM. 1999. Clinical and epidemiological features. In: Friedman JM, Gutmann D, MacCollin M, Riccardi VM, editors. Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. Baltimore: Johns Hopkins University Press, p 29-86.
    • (1999) Neurofibromatosis: Phenotype, Natural History, and Pathogenesis , pp. 29-86
    • Friedman, J.M.1    Riccardi, V.M.2
  • 23
    • 0027395630 scopus 로고
    • National Neurofibromatosis Foundation International Database
    • Friedman JM, Birch P, Greene C. 1993. National Neurofibromatosis Foundation International Database. Am J Med Genet 45:88-91.
    • (1993) Am J Med Genet , vol.45 , pp. 88-91
    • Friedman, J.M.1    Birch, P.2    Greene, C.3
  • 24
    • 0020426587 scopus 로고
    • Pseudarthrosis of the radius associated with neurofibromatosis. A case report
    • Gregg PJ, Price BA, Ellis HA, Stevens J. 1982. Pseudarthrosis of the radius associated with neurofibromatosis. A case report. Clin Orthop Relat Res 171:175-179.
    • (1982) Clin Orthop Relat Res , vol.171 , pp. 175-179
    • Gregg, P.J.1    Price, B.A.2    Ellis, H.A.3    Stevens, J.4
  • 25
    • 0030957310 scopus 로고    scopus 로고
    • The diagnostic evalulation and multidisciplinary management of Neurofibromatosis 1 and Neurofibromatosis 2
    • Gutmann DH, Aylsworth A, Carey JC. et al. 1997. The diagnostic evalulation and multidisciplinary management of Neurofibromatosis 1 and Neurofibromatosis 2. JAMA 278:51-57.
    • (1997) JAMA , vol.278 , pp. 51-57
    • Gutmann, D.H.1    Aylsworth, A.2    Carey, J.C.3
  • 28
    • 0033985640 scopus 로고    scopus 로고
    • Pathology of bone lesions associated with congenital pseudarthrosis of the leg
    • Ippolito E, Corsi A, Grill F, Wientroub S, Bianco P. 2000. Pathology of bone lesions associated with congenital pseudarthrosis of the leg. J Pediatr Orthop B 9:3-10.
    • (2000) J Pediatr Orthop B , vol.9 , pp. 3-10
    • Ippolito, E.1    Corsi, A.2    Grill, F.3    Wientroub, S.4    Bianco, P.5
  • 31
    • 16644392408 scopus 로고    scopus 로고
    • NF1 tumour suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embtyos
    • Kuorilehto T, Nissinen M, Koivunen J, Benson MD, Peltonen J. 2004a. NF1 tumour suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embtyos. J Bone Miner Res 19:983-989.
    • (2004) J Bone Miner Res , vol.19 , pp. 983-989
    • Kuorilehto, T.1    Nissinen, M.2    Koivunen, J.3    Benson, M.D.4    Peltonen, J.5
  • 32
    • 23744514711 scopus 로고    scopus 로고
    • Decreased bone mineral density and content in Neurofibromatosis type 1: Lowest local values are located in the load-carrying parts of the body
    • Kuorilehto T, Poyhonen M, Bloigu R, Heikkinen J, Vaananen K, Peltonen J. 2004b. Decreased bone mineral density and content in Neurofibromatosis type 1: Lowest local values are located in the load-carrying parts of the body. Osteoporos Int 16:928-936.
    • (2004) Osteoporos Int , vol.16 , pp. 928-936
    • Kuorilehto, T.1    Poyhonen, M.2    Bloigu, R.3    Heikkinen, J.4    Vaananen, K.5    Peltonen, J.6
  • 33
    • 12444334564 scopus 로고    scopus 로고
    • Prevalence of Neurofibromatosis 1 in German children at elementary school enrollment
    • Lammert M, Friedman JM, Kluwe L, Mautner VF. 2005a. Prevalence of Neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol 141:71-74.
    • (2005) Arch Dermatol , vol.141 , pp. 71-74
    • Lammert, M.1    Friedman, J.M.2    Kluwe, L.3    Mautner, V.F.4
  • 35
    • 0029057859 scopus 로고
    • Absence of the greater sphenoid wing in Neurofibromatosis type I: Congenital or acquired: Case report
    • Maefarlane R, Levin AV, Weksberg R, Blaser S, Rutka JT. 1995. Absence of the greater sphenoid wing in Neurofibromatosis type I: Congenital or acquired: Case report. Neurosurgery 37:129-133.
    • (1995) Neurosurgery , vol.37 , pp. 129-133
    • Maefarlane, R.1    Levin, A.V.2    Weksberg, R.3    Blaser, S.4    Rutka, J.T.5
  • 37
    • 17644380786 scopus 로고
    • Other skull defects: Craniolacunia, foramina parietalia permagna, aplasia of the sphenoid wings
    • Vinken Bruyn GW, editors, Amsterdam: Elsevier, p
    • Myrianthopoulos NC. 1977. Other skull defects: Craniolacunia, foramina parietalia permagna, aplasia of the sphenoid wings. In: Vinken PG, Bruyn GW, editors. Handbook of clinical neurology. Amsterdam: Elsevier, p 269-284.
    • (1977) Handbook of clinical neurology , pp. 269-284
    • Myrianthopoulos, N.C.1
  • 40
    • 1442308629 scopus 로고    scopus 로고
    • Analysis of Neurofibromatosis (NF1) lesions by body segment
    • Palmer C, Szudek J, Joe H, Riccardi VM, Friedman JM. 2004. Analysis of Neurofibromatosis (NF1) lesions by body segment. Am J Med Genet Part A 125A:157-161.
    • (2004) Am J Med Genet , vol.125 A , Issue.PART A , pp. 157-161
    • Palmer, C.1    Szudek, J.2    Joe, H.3    Riccardi, V.M.4    Friedman, J.M.5
  • 43
    • 17644362123 scopus 로고    scopus 로고
    • Skeletal system
    • Friedman JM, Gutmann D, MacCollin M, Riccardi VM, editors, 3rd edn. Baltimore: Johns Hopkins University Press
    • Riccardi VM. 1999. Skeletal system. In: Friedman JM, Gutmann D, MacCollin M, Riccardi VM, editors. Neurofibromatosis: Phenotype, Natural History and Pathogenesis. 3rd edn. Baltimore: Johns Hopkins University Press.
    • (1999) Neurofibromatosis: Phenotype, Natural History and Pathogenesis
    • Riccardi, V.M.1
  • 45
    • 0025161494 scopus 로고
    • Dystrophic spinal deformity in Neurofibromatosis
    • Sirosis JL, Drennan JC. 1990. Dystrophic spinal deformity in Neurofibromatosis. J Pediatr Orthop 10:522-526.
    • (1990) J Pediatr Orthop , vol.10 , pp. 522-526
    • Sirosis, J.L.1    Drennan, J.C.2
  • 48
    • 0034530244 scopus 로고    scopus 로고
    • Growth in North American white children with Neurofibromatosis 1 (NF1)
    • Szudek J, Birch P, Friedman JM. 2000a. Growth in North American white children with Neurofibromatosis 1 (NF1). J Med Genet 37:933-938.
    • (2000) J Med Genet , vol.37 , pp. 933-938
    • Szudek, J.1    Birch, P.2    Friedman, J.M.3
  • 50
    • 0036668720 scopus 로고    scopus 로고
    • Analysis of intrafamilial phenotypic variations in Neurofibromatosis 1 (NF1)
    • Szudek J, Joe H, Friedman JM. 2002. Analysis of intrafamilial phenotypic variations in Neurofibromatosis 1 (NF1). Genet Epidemiol 23:150-164.
    • (2002) Genet Epidemiol , vol.23 , pp. 150-164
    • Szudek, J.1    Joe, H.2    Friedman, J.M.3
  • 51
    • 0037358651 scopus 로고    scopus 로고
    • Patterns of associations of clinical features in Neurofibromatosis 1 (NF1)
    • SzudekJ, Evans DG, Friedman JM. 2003. Patterns of associations of clinical features in Neurofibromatosis 1 (NF1). Hum Genet 112:289-297.
    • (2003) Hum Genet , vol.112 , pp. 289-297
    • Szudek, J.1    Evans, D.G.2    Friedman, J.M.3
  • 52
    • 0036887205 scopus 로고    scopus 로고
    • Dura ectasia in Neurofibromatosis
    • Tubbs RS, Oakes WJ. 2002. Dura ectasia in Neurofibromatosis. Pediatr Neurosurg 37:331-332.
    • (2002) Pediatr Neurosurg , vol.37 , pp. 331-332
    • Tubbs, R.S.1    Oakes, W.J.2
  • 53
    • 0036872341 scopus 로고    scopus 로고
    • Pathogenesis of hereditary tumors: Bevond the "two-hit" hypothesis
    • Tucker T, Friedman JM. 2002. Pathogenesis of hereditary tumors: Bevond the "two-hit" hypothesis. Clin Genet 62:345-357.
    • (2002) Clin Genet , vol.62 , pp. 345-357
    • Tucker, T.1    Friedman, J.M.2
  • 54
    • 0036338527 scopus 로고    scopus 로고
    • Orthopedic manifestations of Neurofibromatosis in children
    • Vitale MG, Guha A, Skaggs DL. 2002. Orthopedic manifestations of Neurofibromatosis in children. An update. Clin Orthop 401: 107-118.
    • (2002) An update. Clin Orthop , vol.401 , pp. 107-118
    • Vitale, M.G.1    Guha, A.2    Skaggs, D.L.3
  • 55
    • 0029035747 scopus 로고
    • Neurofibromatosis type 1: Pathology, clinical features and molecular genetics
    • Von-Deimling A, Krone W, Menon AG. 1995. Neurofibromatosis type 1: Pathology, clinical features and molecular genetics. Brain Pathol 5:153-162.
    • (1995) Brain Pathol , vol.5 , pp. 153-162
    • Von-Deimling, A.1    Krone, W.2    Menon, A.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.