Chien Jen-Chung, Chen Shu-Jen, Tiu Chui-Mei, Chen Yann-Jang, Hwang Betau, Niu Dau-Ming
Department of Paediatrics, Taipei Veterans General Hospital, National Yang Ming University, Taipei, Taiwan.
Eur J Pediatr. 2005 Jun;164(6):350-4. doi: 10.1007/s00431-005-1630-2. Epub 2005 Feb 24.
The urorectal septum malformation sequence (URSMS) consists of multiple systems anomalies including ambiguous genitalia, the absence of a perineal opening, an imperforate anus, and urogenital, colonic and lumbosacral anomalies. We describe a 3-day-old female infant with characteristic URSMS and review its clinical manifestations, outcomes and putative pathogenesis. We also compare its characteristics with those of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia (VATER) association.
Although defects of the urorectal septum malformation sequence and the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association overlap, we believe that they are separate entities. Differentiating the urorectal septum malformation sequence from vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association is helpful to develop appropriate clinical investigations and search for the aetiology and pathogenesis of these diseases.
尿直肠隔畸形序列（URSMS）由多种系统异常组成，包括生殖器模糊、会阴开口缺失、肛门闭锁以及泌尿生殖、结肠和腰骶部异常。我们描述了一名患有典型URSMS的3日龄女婴，并回顾其临床表现、结局及可能的发病机制。我们还将其特征与脊柱裂、肛门闭锁、气管食管瘘、肾脏缺陷和桡骨发育不良（VATER）综合征的特征进行比较。
虽然尿直肠隔畸形序列的缺陷与脊柱裂、肛门闭锁、气管食管瘘、肾脏缺陷和桡骨发育不良综合征有重叠，但我们认为它们是不同的实体。将尿直肠隔畸形序列与脊柱裂、肛门闭锁、气管食管瘘、肾脏缺陷和桡骨发育不良综合征区分开来，有助于开展适当的临床研究，并探寻这些疾病的病因和发病机制。
