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Volumn 40, Issue 4, 2003, Pages 433-436

Shprintzen-Goldberg syndrome: Case report

Author keywords

Craniosynostosis; Marfanoid features; Shprintzen Goldberg syndrome

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CRANIOFACIAL SYNOSTOSIS; FACE MALFORMATION; FEMALE; HUMAN; MARFAN SYNDROME; MAXILLOFACIAL DISORDER; MENTAL RETARDATION MALFORMATION SYNDROME; MUSCLE HYPOTONIA; PRIORITY JOURNAL; SCHOOL CHILD; SHPRINTZEN GOLDBERG SYNDROME; SYNDROME;

EID: 0038783293     PISSN: 10556656     EISSN: None     Source Type: Journal    
DOI: 10.1597/1545-1569(2003)040<0433:SSCR>2.0.CO;2     Document Type: Article
Times cited : (11)

References (20)
  • 1
    • 0032996258 scopus 로고    scopus 로고
    • A male patient presenting with major clinical symptoms of glycocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations
    • Adachi M, Tachibana K, Asakura Y, Suwa S, Nishimura G. A male patient presenting with major clinical symptoms of glycocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations. Endocr J. 1999;46:285-292.
    • (1999) Endocr J , vol.46 , pp. 285-292
    • Adachi, M.1    Tachibana, K.2    Asakura, Y.3    Suwa, S.4    Nishimura, G.5
  • 4
    • 0018577709 scopus 로고
    • Craniosynostosis and syndromes with craniosynostosis: Incidence, genetics, penetrance, variability and new syndrome updating
    • O'Donnell JJ, Hall BD, ed. New York: Alan R Liss, Inc., for the National Foundation-March of Dimes. BD: OAS
    • Cohen MM Jr. Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability and new syndrome updating. In: O'Donnell JJ, Hall BD, ed. Penetrance and Variability in Malformation Syndromes. New York: Alan R Liss, Inc., for the National Foundation-March of Dimes. BD: OAS. 1979;XV(5B):13-63.
    • (1979) Penetrance and Variability in Malformation Syndromes , vol.15 , Issue.5 B , pp. 13-63
    • Cohen M.M., Jr.1
  • 5
    • 0024259069 scopus 로고
    • Craniosynostosis update
    • Cohen MM Jr. Craniosynostosis update. Am J Med Genet. 1988;4(suppl):99-148.
    • (1988) Am J Med Genet , vol.4 , Issue.SUPPL. , pp. 99-148
    • Cohen M.M., Jr.1
  • 8
    • 0030722119 scopus 로고    scopus 로고
    • Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11
    • Hatchwell E. Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11. J Pediatr. 1997;131:164-165.
    • (1997) J Pediatr , vol.131 , pp. 164-165
    • Hatchwell, E.1
  • 9
    • 0030778814 scopus 로고    scopus 로고
    • Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
    • Hayward C, Brock DJ. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. Hum Mutat. 1997;10:415-423.
    • (1997) Hum Mutat , vol.10 , pp. 415-423
    • Hayward, C.1    Brock, D.J.2
  • 10
  • 12
  • 13
    • 0021697748 scopus 로고
    • A method of cephalometric evaluation
    • McNamara JA. A method of cephalometric evaluation. Am J Orthod. 1984;86:449-69.
    • (1984) Am J Orthod , vol.86 , pp. 449-469
    • McNamara, J.A.1
  • 14
    • 0033783405 scopus 로고    scopus 로고
    • Genetic disorders of the elastic fiber system
    • Milewicz DM, Urban Z, Boyd C. Genetic disorders of the elastic fiber system. Matrix Biol. 2000;19:471-480.
    • (2000) Matrix Biol , vol.19 , pp. 471-480
    • Milewicz, D.M.1    Urban, Z.2    Boyd, C.3
  • 16
    • 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. 1995;57:573-578.
    • (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
  • 17
    • 0031302071 scopus 로고    scopus 로고
    • Shprintzen-Goldberg syndrome, a case report
    • Seemanova E, Kozlowski K. Shprintzen-Goldberg syndrome, a case report. Radiol Med. 1997;94:673-675.
    • (1997) Radiol Med , vol.94 , pp. 673-675
    • Seemanova, E.1    Kozlowski, K.2
  • 18
    • 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. 1982;2:65-74.
    • (1982) J Craniofac Genet Dev Biol , vol.2 , pp. 65-74
    • Shprintzen, R.J.1    Goldberg, R.B.2
  • 19
    • 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. 1996;12:209-211.
    • (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
  • 20
    • 2442692777 scopus 로고
    • Case report 74: Craniofacial and musculoskeletal abnormalities-a questionable connective tissue disease
    • Sugarman C, Vogel MW. Case report 74: craniofacial and musculoskeletal abnormalities-a questionable connective tissue disease. Syndrome Ident. 1981;7:16-17.
    • (1981) Syndrome Ident , vol.7 , pp. 16-17
    • Sugarman, C.1    Vogel, M.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.