Robinson L P, Worthen N J, Lachman R S, Adomian G E, Rimoin D L
Prenat Diagn. 1987;7(1):7-15. doi: 10.1002/pd.1970070103.
Ultrasonographic and radiographic evaluation of a fetus at risk for osteogenesis imperfecta (O.I) type III was performed. Real-time ultrasound measurements at 15 weeks gestation were interpreted as normal, but at 20 and 22 weeks of gestation revealed marked shortening of the long bones and deformity of the femurs. The findings were confirmed by fetal radiography at 22 weeks gestation. Radiographic and histologic changes characteristic of O.I. were observed in the aborted fetus. Thus the antenatal manifestations of O.I. type III maybe severe enough to make prenatal diagnosis possible in the second trimester for families at risk for recurrence of this disorder.
对一名有III型成骨不全症（O.I）风险的胎儿进行了超声和放射学评估。妊娠15周时的实时超声测量结果被解读为正常，但在妊娠20周和22周时发现长骨明显缩短以及股骨畸形。这些发现于妊娠22周时通过胎儿放射摄影得到证实。在流产胎儿中观察到了成骨不全症的放射学和组织学特征性变化。因此，III型成骨不全症的产前表现可能严重到足以在孕中期对有该疾病复发风险的家庭进行产前诊断。
