Brachmann-de Lange syndrome: Pre- and postnatal findings

✍ Scribed by Manouvrier, Sylvie; Espinasse, Muriel; Vaast, Pascal; Boute, Odile; Farre, Isabelle; Dupont, Fabienne; Puech, Francis; Gosselin, Bernard; Farriaux, Jean-Pierre

• Book ID: 101212983
• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 49 KB
• Volume: 62
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960329)62:3<268::aid-ajmg12>3.0.co;2-i

✦ Synopsis

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. W e also present a review of the literature concerning pre-and postnatal findings in this syndrome. @