Chen C P, Lin C J, Chang T Y, Hsu C Y, Tzen C Y, Wang W
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Genet Couns. 2007;18(1):105-12.
Three fetuses having limb-body wall complex (LBWC) with craniofacial defects and 9 fetuses having LBWC without craniofacial defects were diagnosed and delivered in the second trimester at Mackay Memorial Hospital during the period January 1990 - May 2006. Cases of LBWC with craniofacial defects showed severe anomalies of the upper limbs, craniofacial defects, constrictive amniotic bands and cranioplacental attachment, whereas, cases of LBWC without craniofacial defects presented major anomalies of the lower limbs, abnormal genitalia, anal atresia, renal defects, abdominoplacental attachment and umbilical cord abnormalities. The perinatal findings of LBWC with or without craniofacial defects were compared and the pathogenesis was discussed.
1990年1月至2006年5月期间,在麦凯纪念医院有3例患有肢体-体壁复合体(LBWC)并伴有颅面缺陷的胎儿以及9例患有LBWC但无颅面缺陷的胎儿在孕中期被诊断出来并分娩。伴有颅面缺陷的LBWC病例表现为上肢严重畸形、颅面缺陷、紧缩性羊膜带和颅骨胎盘附着,而无颅面缺陷的LBWC病例则表现为下肢主要畸形、生殖器异常、肛门闭锁、肾脏缺陷、腹壁胎盘附着和脐带异常。对伴有或不伴有颅面缺陷的LBWC的围产期表现进行了比较并讨论了其发病机制。