Brochut Anne-Claude Müller, Baumann Marc U, Kuhn Annette, Di Naro Eduardo, Tutschek Boris, Surbek Daniel, Raio Luigi
Department of Obstetrics and Gynecology, University of Berne-Inselspital, Switzerland.
Pediatr Dev Pathol. 2011 Sep-Oct;14(5):396-401. doi: 10.2350/10-09-0914-CC.1. Epub 2011 Jun 15.
Pentalogy of Cantrell (PC) is a rare congenital syndrome involving the abdominal wall, sternum, diaphragm, pericardium, and heart. The embryonic period in which PC develops coincides with that of umbilical cord (UC) formation. The aim of the following study was to address the question of whether PC is associated with UC pathologies. Four cases, prenatally identified between 2002 and 2008, were enrolled in this study. Umbilical cord pathologies defined as single umbilical artery, short cord, or UC with atypical coiling pattern were retrospectively assessed on stored ultrasound images and from autopsy reports. The literature regarding PC and UC pathologies was reviewed. Three singleton pregnancies and 1 monoamniotic twin pregnancy with twin reversed arterial perfusion sequence were reviewed. All had a normal karyotype. Three showed the classical PC stigmata, with ectopia cordis. One fetus had no ectopia cordis; this case had a normal UC, whereas all others fetuses showed a short UC with atypical coiling pattern. Of 26 publications dealing with PC, the UC was described in only 8 cases, 7 of which were abnormal. There seems to be a strong correlation between the PC and UC abnormalities, in particular in cases with ectopia cordis. We speculate that the insult leading to the classical malformations of PC and UC abnormalities is the same or the sequence of malformations itself may alter the early fetoplacental blood flow and therefore the normal development of the UC angioarchitecture.
坎特雷尔五联症（PC）是一种罕见的先天性综合征，累及腹壁、胸骨、膈肌、心包和心脏。PC发生的胚胎期与脐带（UC）形成期一致。以下研究的目的是探讨PC是否与UC病变相关。本研究纳入了2002年至2008年间产前确诊的4例病例。通过回顾存储的超声图像和尸检报告，对定义为单脐动脉、脐带过短或脐带呈非典型盘绕模式的脐带病变进行了评估。对有关PC和UC病变的文献进行了综述。回顾了3例单胎妊娠和1例单绒毛膜双胎妊娠合并双胎反向动脉灌注序列的病例。所有病例核型均正常。3例表现为典型的PC体征，伴有心脏异位。1例胎儿无心脏异位；该病例脐带正常，而其他所有胎儿均表现为脐带过短且呈非典型盘绕模式。在26篇关于PC的文献中，仅8例描述了脐带情况，其中7例异常。PC与UC异常之间似乎存在很强的相关性，尤其是在伴有心脏异位的病例中。我们推测，导致PC典型畸形和UC异常的损伤是相同的，或者畸形序列本身可能改变早期胎儿-胎盘血流，从而影响UC血管结构的正常发育。
