Department of Pediatric Surgery, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA 90027, USA.
J Pediatr Surg. 2010 Nov;45(11):e39-42. doi: 10.1016/j.jpedsurg.2010.07.054.
Prune belly syndrome (PBS), megacystis-microcolon-intestinal hypoperistalsis (MMIH), and omphalocele-exstrophy of the bladder-imperforate anus-spine abnormalities complex (OEIS) are rare congenital malformations of the newborn that lead to incomplete formation of the gastrointestinal and genitourinary tract systems. To date, incomplete mesodermal development is identified as the cause for all these complex genetic syndromes even if the etiology is still unknown. We present an original case sharing characteristics common to PBS, MMIH, and OEIS complex, without a clear inclination toward any particular one. This case hints toward a common pathway in the creation of the 3 syndromes. We hypothesize that they are a spectrum of malformations based on the time frame when the mesoderm fails to create a normal interaction between infraumbilical mesoderm, urorectal septum, lumbosacral somites in the formation of the abdominal wall and the genitourinary and lower gastrointestinal tracts.
先天性脐膨出膀胱外翻-直肠肛门发育不良脊柱畸形（OEIS）、巨膀胱-小肠微细运动不良（MMIH）和梅干腹综合征（PBS）是新生儿罕见的先天性畸形，导致胃肠道和泌尿生殖系统发育不全。到目前为止，不完全中胚层发育被认为是所有这些复杂遗传综合征的原因，尽管病因仍不清楚。我们报告了一个具有 PBS、MMIH 和 OEIS 共同特征的原始病例，但没有明显的倾向于任何特定的病例。该病例提示了 3 种综合征形成的共同途径。我们假设它们是基于中胚层未能在腹壁和泌尿生殖及下消化道形成过程中正常地进行脐下中胚层、尿生殖膈和腰骶体节之间相互作用的时间段，出现的畸形谱。
