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Sirenomelia

机译:西雷诺米利亚

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摘要

Sirenomelia is a rare congenital anomaly with incidence of 1.5–4.2 per 100,000 births. Vascular steal phenomenon, posterior axial mesodermal defect or teratogenic defects have been implied in its pathogenesis. The authors present two cases with associated upper limb involvement and vertebral defects and complete absence of one lower limb bones in one case. Autopsy revealed abnormalities in internal organs. Both cases were associated with single umbilical artery and severe oligohyramnios. Sirenomelia should be suspected in antenatal period in cases presenting with severe oligohydramnios and intrauterine growth retardation for a early diagnosis and appropriate management of pregnancy. Key words Sirenomelia - Single umbilical artery - Antenatal diagnosis
机译:肾膜炎是一种罕见的先天性畸形,每100,000例新生儿中发生率1.5-4.2。在其发病机理中暗示了血管盗窃现象,后中胚轴后部缺损或致畸性缺损。作者介绍了2例伴有上肢受累和椎骨缺损的病例,其中1例完全没有下肢骨骼。尸检显示内部器官异常。两种病例均伴有单条脐动脉和严重的羊水过少。对于严重羊水过少和宫内发育迟缓的病例,应在产前怀疑肾炎。关键词线虫-单条脐动脉-产前诊断

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