Tantbirojn Patou, Taweevisit Mana, Sritippayawan Suchila, Tanawattanacharoen Somchai, Uerpairojkit Boonchai
Department of Obstetrics, Chulalongkorn University, Bangkok, Thailand.
J Obstet Gynaecol Res. 2008 Aug;34(4 Pt 2):663-5. doi: 10.1111/j.1447-0756.2008.00904.x.
A case of prenatally diagnosed agnathia-otocephaly is reported. Agnathia is an extremely rare anomaly characterized by an absence or hypoplasia of the mandible and abnormal horizontal position of the ears. The targeted 2-D ultrasonography at 24 weeks of gestation revealed abnormal lower facial profile. Surface rendering 3-D ultrasonography was used to evaluate the facial feature, showing excellent image when compared to the fetal face at autopsy. The reported case is discussed with a short review of the literature.
本文报告了一例产前诊断的无下颌-耳-头序列征病例。无下颌是一种极为罕见的先天性畸形，其特征为下颌骨缺失或发育不全以及耳朵水平位置异常。妊娠24周时进行的针对性二维超声检查显示面部下侧轮廓异常。使用表面成像三维超声评估面部特征，与尸检时的胎儿面部相比，图像效果极佳。本文结合文献简短回顾对该病例进行了讨论。
