JC Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina, USA.
Am J Med Genet A. 2011 Sep;155A(9):2045-59. doi: 10.1002/ajmg.a.34161. Epub 2011 Aug 3.
Aside from gastroschisis and omphalocele, major defects of the ventral body (thoracoabdominal) wall are relatively uncommon and almost universally lethal. They are most often associated with other anomalies including those of the limbs that may range from amelia to mild positional deformations, unusual craniofacial malformations, and a variety of visceral abnormalities that include the heart, lungs, genitourinary system, and gut. This complex of ventral wall anomalies has been discussed under a broad and changing nomenclature that has included amniotic band disruption complex, amnion rupture sequence, limb-body wall defect (or complex), and simply body wall complex. Three major theories have been suggested to explain this complex: early amnion rupture (operating through uterine pressure and/or disruption by amniotic bands), vascular compromise (primarily hypoperfusion), and an early intrinsic defect of the developing embryo. We present four patients that illustrate the spectrum of ventral body wall defects, and from there critique the current hypotheses of pathogenesis. We conclude that this association of malformations originates as early as the embryonic disc stage, and that some of the observed associated anomalies are secondary complications of the primary disturbance in embryogenesis. We propose a new explanation for the atypical facial clefts and cranial malformations that are often observed.
除了腹裂和脐膨出，腹部（胸腹）壁的主要缺陷相对较少见，且几乎普遍致命。它们通常与其他异常相关，包括肢体异常，范围从无肢到轻度位置畸形、不寻常的颅面畸形，以及各种内脏异常，包括心脏、肺、泌尿生殖系统和肠道。这种腹壁异常的综合体已经在广泛而不断变化的命名法下进行了讨论，包括羊膜带破裂综合征、羊膜破裂序列、肢体-体壁缺陷（或综合体），以及简单的体壁综合体。有三种主要理论被提出来解释这种综合体：早期羊膜破裂（通过子宫压力和/或羊膜带的破坏作用）、血管受损（主要是灌注不足）和胚胎发育的早期内在缺陷。我们展示了四个患者，说明了腹部体壁缺陷的范围，并从那里对目前的发病机制假说进行了批评。我们得出结论，这种畸形的关联早在胚胎盘阶段就已经存在，并且一些观察到的相关异常是胚胎发生中主要干扰的继发并发症。我们提出了一个新的解释，用于解释经常观察到的非典型面部裂隙和颅面畸形。
