Winter R, Rosenkranz W, Hofmann H, Zierler H, Becker H, Borkenstein M
Prenat Diagn. 1985 Jan-Feb;5(1):1-8. doi: 10.1002/pd.1970050102.
Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th week of gestation. This was confirmed in the 18th week. The pregnancy was terminated and the fetus showed the typical radiological, anatomical and histological findings.
近亲结婚的夫妇育有一名患有弯肢侏儒症的男婴,该男婴出生后不久便因呼吸窘迫加重而夭折。第二次怀孕时,通过超声检查进行了频繁监测,足月时产下一名健康男婴。在第三次怀孕期间,超声检查显示妊娠第16周时胎儿患有弯肢侏儒症。第18周时得到确诊。此次妊娠终止,胎儿呈现出典型的放射学、解剖学和组织学特征。