Literature DB >> 8882785

Brachmann-de Lange syndrome: pre- and postnatal findings.

S Manouvrier1, M Espinasse, P Vaast, O Boute, I Farre, F Dupont, F Puech, B Gosselin, J P Farriaux.   

Abstract

Brachmann-de Lange syndrome (BDLS) is a well-delineated and relatively common syndrome. However, prenatal diagnosis has never been reported, even if in some cases ultrasonography demonstrated one or more manifestations of the syndrome. We report on 3 cases: in the first 2 cases, prenatal ultrasonography demonstrated some signs of the condition. The third represents, to our knowledge, the first prenatal diagnosis of BDLS. We also present a review of the literature concerning pre- and postnatal findings in this syndrome.

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Year:  1996        PMID: 8882785     DOI: 10.1002/(SICI)1096-8628(19960329)62:3<268::AID-AJMG12>3.0.CO;2-I

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

Review 1.  Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.

Authors:  Samantha A Schrier; Ilana Sherer; Matthew A Deardorff; Dinah Clark; Lynn Audette; Lynette Gillis; Antonie D Kline; Linda Ernst; Kathleen Loomes; Ian D Krantz; Laird G Jackson
Journal:  Am J Med Genet A       Date:  2011-11-08       Impact factor: 2.802

Review 2.  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

Review 3.  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
  3 in total

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