Crespo Frank, Pinar Halit, Kostadinov Stefan
Department of Obstetrics and Gynecology, University of Miami Leonard M. Miller School of Medicine, Jackson Memorial Hospital, Miami, FL, USA; Department of Perinatal Pathology, Warren Alpert Medical School of Brown University, Women and Infants Hospital, Providence, RI, USA.
Department of Perinatal Pathology, Warren Alpert Medical School of Brown University, Women and Infants Hospital, Providence, RI, USA.
J Pediatr Genet. 2012 Dec;1(4):235-8. doi: 10.3233/PGE-12037.
We report two cases of limb-body wall complex (LBWC), also known as body stalk anomaly, a rare form of body wall defect incompatible with life. The first case was identified during a level II ultrasound examination performed at 7 wk gestational age. The delivery was by breech extraction at 39 wk and 4 days. The second case was delivered by spontaneous vaginal delivery at 35 wk and 5 days. Karyotype analysis was normal in both fetuses. The phenotype of LBWC is variable, but commonly identified features include: exencephaly, limb defects, and either facial clefts or thoraco-abdominoschisis. The exact etiology remains uncertain, as the disorder has been regarded as sporadic with low recurrence. Vascular disruption during early embryogenesis, early amnion rupture, abnormal splitting of the embryo, and failure of amnion fusion have been implicated in the pathogenesis of LBWC. A role for possible gene mutation and maternal use of alcohol, tobacco, or illicit drugs has also been suggested. Detailed ultrasonography along with biochemical screening may allow for early detection.
我们报告了两例肢体-体壁复合体（LBWC）病例，该病症也被称为体蒂异常，是一种罕见的、与生命不相容的体壁缺损形式。第一例在孕7周时进行的二级超声检查中被发现。于孕39周零4天通过臀位牵引分娩。第二例在孕35周零5天经阴道自然分娩。两例胎儿的核型分析均正常。LBWC的表型各异，但常见特征包括：无脑儿、肢体缺损以及面部裂隙或胸腹裂。确切病因仍不确定，因为该病症被认为是散发性的，复发率较低。早期胚胎发育过程中的血管破坏、羊膜早期破裂、胚胎异常分裂以及羊膜融合失败均与LBWC的发病机制有关。也有人提出可能存在基因突变以及母亲使用酒精、烟草或非法药物的作用。详细的超声检查以及生化筛查可能有助于早期发现。
