| Literature DB >> 8882785 |
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.Entities:
Mesh:
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