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Volumn 146, Issue 15, 2008, Pages 1917-1924

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis

Author keywords

Osteochondrodysplasias; Prenatal diagnosis; Skeletal dysplasias; Ultrasound

Indexed keywords

ACHONDROGENESIS; ARTICLE; BONE DYSPLASIA; BONE RADIOGRAPHY; CHONDRODYSPLASIA; CLINICAL EVALUATION; ECHOGRAPHY; GENETIC DISORDER; GENETIC HETEROGENEITY; HUMAN; OSTEOGENESIS IMPERFECTA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROSPECTIVE STUDY; RETROSPECTIVE STUDY; THANATOPHORIC DWARFISM; FEMALE; GESTATIONAL AGE; PREGNANCY; PRENATAL DEVELOPMENT; STANDARD;

EID: 49649095917     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32269     Document Type: Article
Times cited : (75)

References (28)
  • 1
    • 34249896699 scopus 로고    scopus 로고
    • The 20-week scan: Beyond biometry and anatomy
    • Bahado-Singh RO, Raymond M. 2007. The 20-week scan: Beyond biometry and anatomy. Clin Obstet Gynecol 50:478-486.
    • (2007) Clin Obstet Gynecol , vol.50 , pp. 478-486
    • Bahado-Singh, R.O.1    Raymond, M.2
  • 2
    • 0023318144 scopus 로고
    • Second trimester diagnosis of fetal skeletal dysplasias
    • Donnenfeld AE, Mennuti MT. 1987. Second trimester diagnosis of fetal skeletal dysplasias. Obstet Gynecol Surv 42:199-217.
    • (1987) Obstet Gynecol Surv , vol.42 , pp. 199-217
    • Donnenfeld, A.E.1    Mennuti, M.T.2
  • 3
    • 0034522333 scopus 로고    scopus 로고
    • Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases
    • Doray B, Favre R, Viville B, Langer B, Dreyfus M, Stoll C. 2000. Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases. Ann Genet 43:163-169.
    • (2000) Ann Genet , vol.43 , pp. 163-169
    • Doray, B.1    Favre, R.2    Viville, B.3    Langer, B.4    Dreyfus, M.5    Stoll, C.6
  • 5
    • 0031977218 scopus 로고    scopus 로고
    • Prenatal sonographic diagnosis of skeletal dysplasias - A report of the diagnostic and prognostic accuracy in 35 cases
    • Gaffney G, Manning N, Boyd PA, Rai V, Gould S, Chamberlain P. 1998. Prenatal sonographic diagnosis of skeletal dysplasias - A report of the diagnostic and prognostic accuracy in 35 cases. Prenat Diagn 18:357-362.
    • (1998) Prenat Diagn , vol.18 , pp. 357-362
    • Gaffney, G.1    Manning, N.2    Boyd, P.A.3    Rai, V.4    Gould, S.5    Chamberlain, P.6
  • 6
    • 0037110974 scopus 로고    scopus 로고
    • International nosology and classification of constitutional disorders of bone (2001)
    • Hall CM. 2002. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 113:65-77.
    • (2002) Am J Med Genet , vol.113 , pp. 65-77
    • Hall, C.M.1
  • 7
    • 0038189916 scopus 로고    scopus 로고
    • Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias
    • Krakow D, Williams J, Poehl M, Rimoin DL, Platt LD. 2003. Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound Obstet Gynecol 21:467-472.
    • (2003) Ultrasound Obstet Gynecol , vol.21 , pp. 467-472
    • Krakow, D.1    Williams, J.2    Poehl, M.3    Rimoin, D.L.4    Platt, L.D.5
  • 10
    • 0004293174 scopus 로고
    • NewYork: Churchill Livingstone. p
    • Larson WJ. 1993. Human embryology. NewYork: Churchill Livingstone. p 281-310.
    • (1993) Human embryology , pp. 281-310
    • Larson, W.J.1
  • 11
    • 0035235725 scopus 로고    scopus 로고
    • Defects of human skeletogenesis - Models and mechanisms
    • Mundlos S. 2001. Defects of human skeletogenesis - Models and mechanisms. Novartis Found Symp 232:81-91.
    • (2001) Novartis Found Symp , vol.232 , pp. 81-91
    • Mundlos, S.1
  • 13
    • 0022493547 scopus 로고
    • The birth prevalence rates for the skeletal dysplasias
    • Orioli IM, Castilla EE, Barbosa-Neto JG. 1986. The birth prevalence rates for the skeletal dysplasias. J Med Genet 23:328-332.
    • (1986) J Med Genet , vol.23 , pp. 328-332
    • Orioli, I.M.1    Castilla, E.E.2    Barbosa-Neto, J.G.3
  • 16
    • 33646889964 scopus 로고    scopus 로고
    • Detection of malformations in chromosomally normal fetuses by routine ultrasound at 12 or 18 weeks of gestation - A randomised controlled trial in 39,572 pregnancies
    • Saltvedt S, Almström H, Kublickas M, Valentin L, Grunewald C. 2006. Detection of malformations in chromosomally normal fetuses by routine ultrasound at 12 or 18 weeks of gestation - A randomised controlled trial in 39,572 pregnancies. Br J Obstet Gynaecol 113:664-674.
    • (2006) Br J Obstet Gynaecol , vol.113 , pp. 664-674
    • Saltvedt, S.1    Almström, H.2    Kublickas, M.3    Valentin, L.4    Grunewald, C.5
  • 17
    • 0032904271 scopus 로고    scopus 로고
    • Common phenotype and etiology in warfarin embryopathy and X-linked chondrodysplasia punctata (CDPX)
    • Savarirayan R. 1999. Common phenotype and etiology in warfarin embryopathy and X-linked chondrodysplasia punctata (CDPX). Pediatr Radiol 29:322.
    • (1999) Pediatr Radiol , vol.29 , pp. 322
    • Savarirayan, R.1
  • 18
    • 34547697679 scopus 로고    scopus 로고
    • Chondrodysplasia punctata and maternal autoimmune disease: A new case and review of the literature
    • Shanske AL, Bernstein L, Herzog R. 2007. Chondrodysplasia punctata and maternal autoimmune disease: A new case and review of the literature. Pediatrics 120:e436-e441.
    • (2007) Pediatrics , vol.120
    • Shanske, A.L.1    Bernstein, L.2    Herzog, R.3
  • 22
    • 0024616653 scopus 로고
    • Birth prevalence rates of skeletal dysplasias
    • Stoll C, Dott B, Roth MP, Alembik Y. 1989. Birth prevalence rates of skeletal dysplasias. Clin Genet 35:88-92.
    • (1989) Clin Genet , vol.35 , pp. 88-92
    • Stoll, C.1    Dott, B.2    Roth, M.P.3    Alembik, Y.4
  • 23
    • 33845971924 scopus 로고    scopus 로고
    • Nosology and classification of genetic skeletal disorders: 2006 revision
    • Superti-Furga A, Unger S. 2007. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet Part A 143A:1-18.
    • (2007) Am J Med Genet , vol.143 A , Issue.PART A , pp. 1-18
    • Superti-Furga, A.1    Unger, S.2
  • 24
    • 0036165181 scopus 로고    scopus 로고
    • Molecular-pathogenetic classification of genetic disorders of the skeleton
    • Superti-Furga A, Bonafé L, Rimoin DL. 2001. Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet 106:282-293.
    • (2001) Am J Med Genet , vol.106 , pp. 282-293
    • Superti-Furga, A.1    Bonafé, L.2    Rimoin, D.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.