Becker R, Kunze J, Horn D, Gasiorek-Wiens A, Entezami M, Rossi R, Guschmann M, Sarioglu N
Department of Obstetrics and Gynaecology, Klinikum Benjamin Franklin, Free University of Berlin, Berlin, Germany.
Ultrasound Obstet Gynecol. 2002 Nov;20(5):506-10. doi: 10.1046/j.1469-0705.2002.00839.x.
We report on three pregnancies complicated by Adams-Oliver syndrome in a consanguineous Turkish couple. Two cases were correctly diagnosed prenatally at 22+3 and 13+0 weeks gestation following the first case of Adams-Oliver syndrome in which severe anomalies of the extremities were observed at 26+5 weeks' gestation. In this first case, the diagnosis of Adams-Oliver syndrome was made following termination of pregnancy at 27+2 weeks' gestation. In all three cases, autopsy was performed. All fetuses showed anomalies of the extremities, aplasia cutis and symmetric defects of the skull, with bone being replaced by collagenous tissue. Although there have been numerous cases of the postnatal diagnosis of Adams-Oliver syndrome following termination of pregnancy, this is the first description of the prenatal diagnosis of this disorder.
我们报告了一对近亲结婚的土耳其夫妇的三例妊娠合并亚当斯-奥利弗综合征的病例。在第一例亚当斯-奥利弗综合征病例中，于妊娠26+5周时观察到严重的肢体异常，随后另外两例分别在妊娠22+3周和13+0周时被正确地产前诊断。在第一例中，于妊娠27+2周终止妊娠后做出了亚当斯-奥利弗综合征的诊断。所有三例均进行了尸检。所有胎儿均表现出肢体异常、皮肤发育不全和颅骨对称性缺损，骨骼被胶原组织替代。尽管在终止妊娠后有许多产后诊断亚当斯-奥利弗综合征的病例，但这是该疾病产前诊断的首次描述。
