排序方式： 共有12条查询结果，搜索用时 15 毫秒
11.
Karen Chong Sarah Keating Stephanie Hurst Anne Summers Howard Berger Gareth Seaward Nicole Martin Tami Friedberg David Chitayat 《黑龙江环境通报》2009,29(5):489-494
Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis. Copyright © 2009 John Wiley & Sons, Ltd. 相似文献
12.