诊断为Opitz G/BBB的胎儿病例中的胸腔积液：扩展表型？

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

作者信息

Tessier Aude, Boutaud Lucile, Bruel Ange-Line, Thauvin-Robinet Christel, Roth Philippe, Malan Valérie, Beaujard Marie-Paule, Achaiaa Amale, de Oliveira Judite, Steffann Julie, Encha-Razavi Ferechte, Faivre Laurence, Bessières Bettina, Attié-Bitach Tania

机构信息

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France.

INSERM UMR 1163, Université de Paris, Imagine Institute, Paris, France, Paris, France.

出版信息

Clin Genet. 2020 Dec;98(6):620-621. doi: 10.1111/cge.13840. Epub 2020 Sep 14.

DOI:10.1111/cge.13840

PMID:32926417

Abstract

We report two fetal cases carrying a de novo MID1 mutation and presenting with severe hydrothorax, suggesting the expansion of the phenotype of Opitz GBBB syndrome.

摘要

我们报告了两例携带新发MID1突变并伴有严重胸腔积液的胎儿病例，提示Opitz GBBB综合征的表型有所扩展。