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Volumn 158 A, Issue 8, 2012, Pages 1848-1856

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies

Author keywords

Cornelia de Lange syndrome; IUGR; PAPP A; Prenatal screening

Indexed keywords

PREGNANCY ASSOCIATED PLASMA PROTEIN A;

EID: 84864127380     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35410     Document Type: Article
Times cited : (46)

References (36)
  • 2
    • 0032817937 scopus 로고    scopus 로고
    • Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies
    • Aitken DA, Ireland M, Berry E, Crossley JA, Macri JN, Burn J, Connor JM. 1999. Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. Prenat Diagn 19: 706- 710.
    • (1999) Prenat Diagn , vol.19 , pp. 706-710
    • Aitken, D.A.1    Ireland, M.2    Berry, E.3    Crossley, J.A.4    Macri, J.N.5    Burn, J.6    Connor, J.M.7
  • 3
    • 84864145789 scopus 로고    scopus 로고
    • Prenatal diagnosis of Brachmann-de Lange syndrome using 2-D and 3-D ultrasonography
    • Applewhite L, Rochelson B, McLaughlin J, Vohra N, Bialer M. 2003. Prenatal diagnosis of Brachmann-de Lange syndrome using 2-D and 3-D ultrasonography. Am J Hum Genet 73: 59.
    • (2003) Am J Hum Genet , vol.73 , pp. 59
    • Applewhite, L.1    Rochelson, B.2    McLaughlin, J.3    Vohra, N.4    Bialer, M.5
  • 4
    • 0142041959 scopus 로고    scopus 로고
    • Low first-trimester pregnancy-associated plasma protein-A and Cornelia de Lange syndrome
    • Arbuzova S, Nikolenko M, Krantz D, Hallahan T, Macri J. 2003. Low first-trimester pregnancy-associated plasma protein-A and Cornelia de Lange syndrome. Prenat Diagn 23: 864.
    • (2003) Prenat Diagn , vol.23 , pp. 864
    • Arbuzova, S.1    Nikolenko, M.2    Krantz, D.3    Hallahan, T.4    Macri, J.5
  • 7
    • 0025114274 scopus 로고
    • Prenatal findings in Brachmann-de Lange syndrome
    • Bruner JP, Hsia YE. 1990. Prenatal findings in Brachmann-de Lange syndrome. Obstet Gynecol 76: 966- 968.
    • (1990) Obstet Gynecol , vol.76 , pp. 966-968
    • Bruner, J.P.1    Hsia, Y.E.2
  • 10
    • 0026674961 scopus 로고
    • Prenatal ultrasonographic appearance of "Cornelia de Lange" syndrome
    • Drolshagen LF, Durmon G, Berumen M, Burks DD. 1992. Prenatal ultrasonographic appearance of "Cornelia de Lange" syndrome. J Clin Ultrasound 20: 470- 474.
    • (1992) J Clin Ultrasound , vol.20 , pp. 470-474
    • Drolshagen, L.F.1    Durmon, G.2    Berumen, M.3    Burks, D.D.4
  • 13
    • 0036224610 scopus 로고    scopus 로고
    • Abnormal first-trimester fetal nuchal translucency and Cornelia de Lange syndrome
    • Huang WH, Porto M. 2002. Abnormal first-trimester fetal nuchal translucency and Cornelia de Lange syndrome. Obstet Gynecol 99: 956- 958.
    • (2002) Obstet Gynecol , vol.99 , pp. 956-958
    • Huang, W.H.1    Porto, M.2
  • 14
    • 24344509111 scopus 로고    scopus 로고
    • Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome
    • Hulinsky R, Byrne JL, Lowichik A, Viskochil DH. 2005. Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome. Am J Med Genet Part A 137A: 336- 338.
    • (2005) Am J Med Genet Part A , vol.137 A , pp. 336-338
    • Hulinsky, R.1    Byrne, J.L.2    Lowichik, A.3    Viskochil, D.H.4
  • 15
    • 0027429307 scopus 로고
    • de Lange syndrome: A clinical review of 310 individuals
    • Jackson L, Kline AD, Barr MA, Koch S. 1993. de Lange syndrome: A clinical review of 310 individuals. Am J Med Genet 47: 940- 946.
    • (1993) Am J Med Genet , vol.47 , pp. 940-946
    • Jackson, L.1    Kline, A.D.2    Barr, M.A.3    Koch, S.4
  • 16
    • 0027483693 scopus 로고
    • Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome
    • Jelsema RD, Isada NB, Kazzi NJ, Sargent K, Harrison MR, Johnson MP, Evans MI. 1993. Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome. Am J Med Genet 47: 1022- 1023.
    • (1993) Am J Med Genet , vol.47 , pp. 1022-1023
    • Jelsema, R.D.1    Isada, N.B.2    Kazzi, N.J.3    Sargent, K.4    Harrison, M.R.5    Johnson, M.P.6    Evans, M.I.7
  • 17
    • 34547760852 scopus 로고    scopus 로고
    • A clinical algorithm of prenatal diagnosis of radial ray defects with two and three dimensional ultrasound
    • Kennelly MM, Moran P. 2007. A clinical algorithm of prenatal diagnosis of radial ray defects with two and three dimensional ultrasound. Prenat Diagn 27: 730- 737.
    • (2007) Prenat Diagn , vol.27 , pp. 730-737
    • Kennelly, M.M.1    Moran, P.2
  • 20
    • 0017655994 scopus 로고
    • Microcephalic dwarfism with associated low amniotic fluid 5-hydroxyindole-3-acetic acid (5HIAA). Report of a case of Cornelia de Lange syndrome
    • Lacourt GC, Arendt J, Cox J, Beguin F. 1977. Microcephalic dwarfism with associated low amniotic fluid 5-hydroxyindole-3-acetic acid (5HIAA). Report of a case of Cornelia de Lange syndrome. Helv Paediatr Acta 32: 149- 154.
    • (1977) Helv Paediatr Acta , vol.32 , pp. 149-154
    • Lacourt, G.C.1    Arendt, J.2    Cox, J.3    Beguin, F.4
  • 22
    • 1142298439 scopus 로고    scopus 로고
    • Prenatal diagnosis of a 'minor' form of Brachmann-de Lange syndrome by three-dimensional sonography and three-dimensional computed tomography
    • Le Vaillant C, Quere MP, David A, Berlivet M, Boog G. 2004. Prenatal diagnosis of a 'minor' form of Brachmann-de Lange syndrome by three-dimensional sonography and three-dimensional computed tomography. Fetal Diagn Ther 19: 155- 159.
    • (2004) Fetal Diagn Ther , vol.19 , pp. 155-159
    • Le Vaillant, C.1    Quere, M.P.2    David, A.3    Berlivet, M.4    Boog, G.5
  • 24
    • 33748558072 scopus 로고    scopus 로고
    • Omphalocele in an infant with Cornelia de Lange syndrome
    • Lemire EG. 2006. Omphalocele in an infant with Cornelia de Lange syndrome. Clin Dysmorphol 15: 255- 256.
    • (2006) Clin Dysmorphol , vol.15 , pp. 255-256
    • Lemire, E.G.1
  • 26
    • 0036191538 scopus 로고    scopus 로고
    • Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome
    • Marino T, Wheeler PG, Simpson LL, Craigo SD, Bianchi DW. 2002. Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome. Prenat Diagn 22: 144- 147.
    • (2002) Prenat Diagn , vol.22 , pp. 144-147
    • Marino, T.1    Wheeler, P.G.2    Simpson, L.L.3    Craigo, S.D.4    Bianchi, D.W.5
  • 30
    • 0021970795 scopus 로고
    • The Brachmann-de Lange syndrome
    • Opitz JM. 1985. The Brachmann-de Lange syndrome. Am J Med Genet 22: 89- 102.
    • (1985) Am J Med Genet , vol.22 , pp. 89-102
    • Opitz, J.M.1
  • 31
    • 77956161910 scopus 로고    scopus 로고
    • Brachmann-de Lange syndrome: Definition of prenatal sonographic features to facilitate definitive prenatal diagnosis
    • Pajkrt E, Griffin DR, Chitty LS. 2010. Brachmann-de Lange syndrome: Definition of prenatal sonographic features to facilitate definitive prenatal diagnosis. Prenat Diagn 30: 865- 872.
    • (2010) Prenat Diagn , vol.30 , pp. 865-872
    • Pajkrt, E.1    Griffin, D.R.2    Chitty, L.S.3
  • 32
    • 23244435098 scopus 로고    scopus 로고
    • Cornelia de Lange syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5
    • Price N, Bahra M, Griffin D, Hanna G, Stock A. 2005. Cornelia de Lange syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5. Prenat Diagn 25: 602- 603.
    • (2005) Prenat Diagn , vol.25 , pp. 602-603
    • Price, N.1    Bahra, M.2    Griffin, D.3    Hanna, G.4    Stock, A.5
  • 35
    • 0035934007 scopus 로고    scopus 로고
    • Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome
    • Urban M, Hartung J. 2001. Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome. Am J Med Genet 102: 73- 75.
    • (2001) Am J Med Genet , vol.102 , pp. 73-75
    • Urban, M.1    Hartung, J.2
  • 36
    • 0020960519 scopus 로고
    • Pregnancy-associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome
    • Westergaard JG, Chemnitz J, Teisner B, Poulsen HK, Ipsen L, Beck B, Grudzinskas JG. 1983. Pregnancy-associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome. Prenat Diagn 3: 225- 232.
    • (1983) Prenat Diagn , vol.3 , pp. 225-232
    • Westergaard, J.G.1    Chemnitz, J.2    Teisner, B.3    Poulsen, H.K.4    Ipsen, L.5    Beck, B.6    Grudzinskas, J.G.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.