Crane J P, Beaver H A
Am J Med Genet. 1986 Oct;25(2):251-5. doi: 10.1002/ajmg.1320250209.
Two fetuses at risk for mandibulofacial dysostosis (MFD) were monitored sonographically during the midtrimester of pregnancy. Normal facial and auricular structure were identified in one fetus, and a healthy infant was subsequently delivered. Severe microtia and micrognathia were apparent in the second fetus and a diagnosis of MFD was made and confirmed at delivery. These observations indicate that midtrimester sonographic diagnosis of severe MFD is possible.
在妊娠中期，对两名有下颌面部发育不全（MFD）风险的胎儿进行了超声监测。其中一名胎儿面部和耳部结构正常，随后分娩出一名健康婴儿。第二名胎儿明显患有严重小耳畸形和小颌畸形，分娩时确诊为MFD。这些观察结果表明，在妊娠中期通过超声诊断严重MFD是可行的。
