Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Am J Med Genet A. 2010 Aug;152A(8):2029-33. doi: 10.1002/ajmg.a.33543.
The objective of our article is to illustrate the earliest prenatal sonographic diagnosis of femoral-facial syndrome (FFS) and to illustrate the spectrum of clinical manifestations of this condition. We present serial sonographic evaluation with 3D evaluation in two fetuses diagnosed prenatally with FFS and the postnatal findings in three patients (one fetus following pregnancy interruption and two newborns one of whom was diagnosed prenatally) with FFS. The two patients with prenatally diagnosed FFS were found to have femoral shortening and characteristic facial features, one 12 weeks of gestation, and one at 15 weeks of gestation. The sonographic findings in the two prenatally diagnosed patients were confirmed after delivery. We also present a third patient who was diagnosed at delivery in whom the diagnosis was missed at a routine prenatal sonogram at 19 weeks of gestation. The patients reported herein expand the clinical spectrum of FFS. The utility of sonographic evaluation in diagnosis of the facial appearance and of the bony abnormalities in this condition is emphasized.
我们这篇文章的目的是举例说明最早的股骨-面部综合征（FFS）产前超声诊断，并举例说明该病症的临床表现谱。我们展示了两例经产前诊断为 FFS 的胎儿的连续超声评估和 3D 评估，以及三例 FFS 患者（1 例为妊娠中断胎儿和 2 例新生儿，其中 1 例为产前诊断）的产后发现。这两名产前诊断为 FFS 的患者被发现股骨缩短和特征性面部特征，一个在 12 周妊娠，一个在 15 周妊娠。两名产前诊断患者的超声发现在分娩后得到证实。我们还介绍了第三位在分娩时诊断的患者，该患者在 19 周妊娠的常规产前超声检查中漏诊。本文报道的患者扩展了 FFS 的临床谱。强调了超声评估在诊断该病症的面部外观和骨骼异常方面的作用。
