Russo R, D'Armiento M, Angrisani P, Vecchione R
Department of Pathology, University of Naples, Italy.
Am J Med Genet. 1993 Nov 1;47(6):893-900. doi: 10.1002/ajmg.1320470617.
The analysis of the literature on limb body wall complex reveals a varied and rather confused spectrum of cases. However, we noticed the presence of at least 2 clearly distinguishable phenotypes. The first phenotype shows craniofacial defects and amniotic bands and/or adhesion; the second--without craniofacial defects--presents urogenital anomalies, anal atresia, and abdominal placental attachment, together with a persistence of the extra-embryonic coelom. We think these 2 phenotypes are the consequence of different pathogenetic mechanisms. The pathogenesis of the first type can be related to an early vascular disruption, while the pathogenesis of the second one is attributable to an intrinsic embryonal maldevelopment. Eight cases of the second phenotype were identified and the pathological findings proving this maldevelopmental origin are described.
对肢体-体壁复合体文献的分析揭示了一系列多样且相当混乱的病例。然而，我们注意到至少存在2种明显可区分的表型。第一种表型表现为颅面缺陷和羊膜带及/或粘连；第二种——无颅面缺陷——伴有泌尿生殖系统异常、肛门闭锁和腹部胎盘附着，同时存在胚外体腔持续存在。我们认为这2种表型是不同致病机制的结果。第一种类型的发病机制可能与早期血管破坏有关，而第二种类型的发病机制则归因于内在胚胎发育异常。我们识别出8例第二种表型的病例，并描述了证实这种发育异常起源的病理发现。
