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Volumn 31, Issue 5, 2011, Pages 515-518

Accuracy of prenatal diagnosis and prediction of lethality for fetal skeletal dysplasias

Author keywords

Lethal; Prenatal diagnosis; Skeletal dysplasia; Termination of pregnancy

Indexed keywords

ADULT; ARTICLE; BONE DYSPLASIA; CLINICAL ARTICLE; DIAGNOSTIC ACCURACY; DISEASE SEVERITY; FEMALE; FETUS; FETUS ECHOGRAPHY; FRACTURE; HUMAN; LONG BONE; MICROMELIA; MOLECULAR DIAGNOSIS; MORTALITY; OUTCOME ASSESSMENT; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TWIN PREGNANCY;

EID: 79954604780     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2729     Document Type: Article
Times cited : (20)

References (15)
  • 1
    • 4243545303 scopus 로고    scopus 로고
    • The accuracy of prenatal diagnosis of skeletal dysplasia
    • Chan A, Chitayat D, Siver M, et al. 1998. The accuracy of prenatal diagnosis of skeletal dysplasia. Am J Hum Genet 63(Suppl): A160.
    • (1998) Am J Hum Genet , vol.63 , Issue.SUPPL.
    • Chan, A.1    Chitayat, D.2    Siver, M.3
  • 2
    • 46349103272 scopus 로고    scopus 로고
    • Prenatal diagnosis of skeletal dysplasia
    • Chitty LS, Griffin D. 2008. Prenatal diagnosis of skeletal dysplasia. Fetal Matern Med Rev 19: 135-164.
    • (2008) Fetal Matern Med Rev , vol.19 , pp. 135-164
    • Chitty, L.S.1    Griffin, D.2
  • 3
    • 53149100532 scopus 로고    scopus 로고
    • Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases
    • Dighe M, Fligner C, Cheng E, Warren B, Dubinsky T. 2008. Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases. Radiographics 28: 1061-1077.
    • (2008) Radiographics , vol.28 , pp. 1061-1077
    • Dighe, M.1    Fligner, C.2    Cheng, E.3    Warren, B.4    Dubinsky, T.5
  • 4
    • 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
    • 0028886729 scopus 로고
    • Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum
    • Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani MP. 1995. Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum. Am J Med Genet 59: 359-364.
    • (1995) Am J Med Genet , vol.59 , pp. 359-364
    • Franceschini, P.1    Guala, A.2    Vardeu, M.P.3    Signorile, F.4    Franceschini, D.5    Bolgiani, M.P.6
  • 6
    • 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
  • 7
    • 62149098439 scopus 로고    scopus 로고
    • Guidelines for the prenatal diagnosis of fetal skeletal dysplasias
    • Krakow D, Lachman RS, Rimoin DL. 2009. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med 11: 127-133.
    • (2009) Genet Med , vol.11 , pp. 127-133
    • Krakow, D.1    Lachman, R.S.2    Rimoin, D.L.3
  • 8
    • 0038189916 scopus 로고    scopus 로고
    • Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias
    • Krakow D, Williams J III, 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 III, J.2    Poehl, M.3    Rimoin, D.L.4    Platt, L.D.5
  • 9
    • 75149128600 scopus 로고    scopus 로고
    • Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia
    • Martinez-Frias ML, De Frutos CA, Bermejo E, Nieto MA. 2010. Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A 152A: 245-255.
    • (2010) Am J Med Genet A , vol.152 , pp. 245-255
    • Martinez-Frias, M.L.1    De Frutos, C.A.2    Bermejo, E.3    Nieto, M.A.4
  • 10
    • 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
  • 13
    • 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
  • 14
    • 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 A 143: 1-18.
    • (2007) Am J Med Genet A , vol.143 , pp. 1-18
    • Superti-Furga, A.1    Unger, S.2
  • 15
    • 0032539523 scopus 로고    scopus 로고
    • Antenatal diagnosis of lethal skeletal dysplasias
    • Tretter AE, Saunders RC, Meyers CM, et al. 1998. Antenatal diagnosis of lethal skeletal dysplasias. Am J Med Genet 75: 518-522.
    • (1998) Am J Med Genet , vol.75 , pp. 518-522
    • Tretter, A.E.1    Saunders, R.C.2    Meyers, C.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.