Department of Fetal Medicine, IASO Maternity Hospital, Athens, Greece.
Arch Gynecol Obstet. 2011 Jan;283(1):59-63. doi: 10.1007/s00404-009-1279-6. Epub 2009 Nov 12.
The objective is to present a rare case of late diagnosis of Cornelia de Lange syndrome.
A 27-year-old pregnant woman (gravida 1, para 0) was referred to our Fetal Medicine Department during her 33rd week of gestation due to intrauterine growth restriction (IUGR) and polyhydramnios. The ultrasound scanning confirmed the findings and furthermore, the 3-D examination revealed minor facial dysmorphisms, limb abnormalities, and hypertrichosis. The fetus died 1 week post-diagnosis due to unknown reason and the woman underwent an induction of labor. Postmortem examination confirmed the diagnosis of Cornelia de Lange syndrome.
The prognosis of the syndrome is severe. Termination of pregnancy before viability is proposed. Genetic counseling is necessary.
本研究旨在报告一例罕见的迟发型 Cornelia de Lange 综合征病例。
一位 27 岁的孕妇（初产妇，孕次 0）在妊娠 33 周时因宫内生长受限（IUGR）和羊水过多被转诊至我院胎儿医学科。超声检查确认了相关发现，三维检查进一步显示出轻微的面部畸形、肢体异常和多毛症。胎儿在诊断后 1 周因不明原因死亡，孕妇接受了引产。尸检证实了 Cornelia de Lange 综合征的诊断。
该综合征的预后严重。建议在可行前终止妊娠。需行遗传咨询。
