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Volumn 105 PEDIATRICS, Issue SUPPL. 3, 2006, Pages 238-241

Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome: Case report and review of the literature

Author keywords

Craniocervical instability; Occipitocervical fusion; Pediatric neurosurgery; Shprintzen Goldberg syndrome; Subaxial instability

Indexed keywords

ANAMNESIS; BONE GRAFT; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CRANIOCERVICAL INSTABILITY; CRANIOFACIAL SYNOSTOSIS; DYSPLASIA; HUMAN; MALE; NECK DYSPLASIA; PHYSICAL EXAMINATION; PHYSIOTHERAPIST; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SCHOOL CHILD; SHPRINTZEN GOLDBERG SYNDROME; SPINE FUSION; SPINE INSTABILITY; SURGICAL TECHNIQUE; ATLANTOOCCIPITAL JOINT; ATLAS; CONGENITAL MALFORMATION; CONNECTIVE TISSUE DISEASE; JOINT INSTABILITY; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; SYNDROME;

EID: 33750102759     PISSN: 00223085     EISSN: 00223085     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (2)

References (15)
  • 3
    • 0031587860 scopus 로고    scopus 로고
    • Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus
    • Hassed S, Shewmake K, Teo C, Curtis M, Cunniff C: Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. Am J Med Genet 70:450-453, 1997
    • (1997) Am J Med Genet , vol.70 , pp. 450-453
    • Hassed, S.1    Shewmake, K.2    Teo, C.3    Curtis, M.4    Cunniff, C.5
  • 4
    • 0030778814 scopus 로고    scopus 로고
    • Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
    • Hayward C, Brock DJH: Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. Hum Mutat 10: 415-423, 1997
    • (1997) Hum Mutat , vol.10 , pp. 415-423
    • Hayward, C.1    Brock, D.J.H.2
  • 6
    • 0029845470 scopus 로고    scopus 로고
    • Radiographic findings in Shprintzen-Goldberg syndrome
    • Nishimura G, Nagai T: Radiographic findings in Shprintzen-Goldberg syndrome. Pediatr Radiol 26:775-778, 1996
    • (1996) Pediatr Radiol , vol.26 , pp. 775-778
    • Nishimura, G.1    Nagai, T.2
  • 7
    • 0034017021 scopus 로고    scopus 로고
    • The molecular genetics of Marfan syndrome and related microfibrillopathies
    • Robinson PN, Godfrey M: The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 37:9-25, 2000
    • (2000) J Med Genet , vol.37 , pp. 9-25
    • Robinson, P.N.1    Godfrey, M.2
  • 9
    • 0029016233 scopus 로고
    • Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull
    • Saal HM, Bulas DI, Allen JF, Vezina LG, Walton D, Rosenbaum KN: Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. Am J Med Genet 57:573-578, 1995
    • (1995) Am J Med Genet , vol.57 , pp. 573-578
    • Saal, H.M.1    Bulas, D.I.2    Allen, J.F.3    Vezina, L.G.4    Walton, D.5    Rosenbaum, K.N.6
  • 10
    • 0031302071 scopus 로고    scopus 로고
    • Shprintzen-Goldberg syndrome. A case report
    • Seemanova E, Kozlowski K: Shprintzen-Goldberg syndrome. A case report. Radiol Med (Torino) 94:673-675, 1997
    • (1997) Radiol Med (Torino) , vol.94 , pp. 673-675
    • Seemanova, E.1    Kozlowski, K.2
  • 11
    • 0020422246 scopus 로고
    • A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias
    • Shprintzen RJ, Goldberg RB: A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. J Craniofac Genet Dev Biol 2:65-74, 1982
    • (1982) J Craniofac Genet Dev Biol , vol.2 , pp. 65-74
    • Shprintzen, R.J.1    Goldberg, R.B.2
  • 12
    • 0030020322 scopus 로고    scopus 로고
    • Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome
    • Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC: Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nat Genet 12:209-211, 1996
    • (1996) Nat Genet , vol.12 , pp. 209-211
    • Sood, S.1    Eldadah, Z.A.2    Krause, W.L.3    McIntosh, I.4    Dietz, H.C.5
  • 13
    • 0036151150 scopus 로고    scopus 로고
    • Shprintzen-Goldberg marfanoid syndrome: A case followed up for 24 years
    • Stoll C: Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years. Clin Dysmorphol 11:1-7, 2002
    • (2002) Clin Dysmorphol , vol.11 , pp. 1-7
    • Stoll, C.1
  • 14
    • 0019750250 scopus 로고
    • Craniofacial and musculoskeletal abnormalities - A questionable connective tissue disease
    • Sugarman G, Vogel MW: Craniofacial and musculoskeletal abnormalities - a questionable connective tissue disease. Synd Ident 7:16-17, 1981
    • (1981) Synd Ident , vol.7 , pp. 16-17
    • Sugarman, G.1    Vogel, M.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.