Literature DB >> 10834327

Prenatal findings in Brachmann-de Lange syndrome.

H Sekimoto1, H Osada, H Kimura, M Kamiyama, K Arai, S Sekiya.   

Abstract

We present a case of Brachmann-de Lange syndrome, in which prenatal ultrasonographic evaluation demonstrated increased nuchal translucency, early onset of intrauterine growth retardation, and limb abnormalities in the first, second, and third trimester, respectively.

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Year:  2000        PMID： 10834327     DOI： 10.1007/s004040050278

Source DB:  PubMed          Journal:  Arch Gynecol Obstet        ISSN： 0932-0067            Impact factor:   2.344


  5 in total

Review 1.  Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.

Authors:  Dinah M Clark; Ilana Sherer; Matthew A Deardorff; Janice L B Byrne; Kathleen M Loomes; Malgorzata J M Nowaczyk; Laird G Jackson; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2012-06-27       Impact factor: 2.802

2.  Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome.

Authors:  Usha Dave; Dhanlaxmi Shetty
Journal:  J Obstet Gynaecol India       Date:  2013-09-29

Review 3.  Unique occurrence of Brachmann-de Lange syndrome in a fetus whose mother presented with a diffuse large B-cell lymphoma.

Authors:  Christiane Schiffer; Monika Schiesser; Jutta Lehr; Gholamali Tariverdian; Dieter Glaeser; Heinz Gabriel; Gregor Mikuz; Consolato Sergi
Journal:  Pathol Oncol Res       Date:  2007-10-07       Impact factor: 3.201

4.  Three-dimensional ultrasound findings in cornelia de lange syndrome: a case report.

Authors:  Yoichiro Akahori; Hisashi Masuyama; Yumi Masumoto; Yuji Hiramatsu
Journal:  Case Rep Obstet Gynecol       Date:  2012-10-08

Review 5.  A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation.

Authors:  Anca Maria Panaitescu; Simona Duta; Nicolae Gica; Radu Botezatu; Florina Nedelea; Gheorghe Peltecu; Alina Veduta
Journal:  Diagnostics (Basel)       Date:  2021-01-19
  5 in total

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