Morin L R, Herlicoviez M, Loisel J C, Jacob B, Feuilly C, Stanescu V
Vire Hospital, France.
Clin Genet. 1991 Jun;39(6):467-70. doi: 10.1111/j.1399-0004.1991.tb03059.x.
Lethal osteogenesis imperfecta was diagnosed at 27 weeks amenorrea in one fetus of a bichorial twin pregnancy. Sonographic findings included: short-limb dwarfism, hypotrophy and hypoechoic bones. The affected fetus was so translucent that only the normal fetus could be seen on plain in utero radiography. The affected fetus died immediately after birth. Postmortem radiography and histology were typical of lethal osteogenesis imperfecta of type IIA. Aids to the etiological diagnosis of in utero dwarfism are presented. Sonographic features correlated with neonatal death are described.
在一例双绒毛膜双胎妊娠的一个胎儿中，孕27周时诊断出致死性成骨不全。超声检查结果包括：短肢侏儒症、骨骼萎缩和低回声。受影响的胎儿非常透明，以至于在子宫内平片上只能看到正常胎儿。受影响的胎儿出生后立即死亡。尸检X线摄影和组织学表现为典型的IIA型致死性成骨不全。本文介绍了宫内侏儒症病因诊断的辅助方法。描述了与新生儿死亡相关的超声特征。
