Banerjee Antima, Faridi M M A, Banerjee Tushar K, Mandal R N, Aggarwal Anju
Department of Pediatrics, University College of Medical Sciences, New Delhi.
Indian J Pediatr. 2003 Jul;70(7):589-91. doi: 10.1007/BF02723165.
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.
美人鱼综合征是一种罕见的先天性畸形,每10万例出生中发病率为1.5 - 4.2例。其发病机制可能与血管窃血现象、后轴中胚层缺陷或致畸性缺陷有关。作者报告了两例伴有上肢受累和脊柱缺陷的病例,其中一例一侧下肢骨骼完全缺失。尸检发现内脏存在异常。两例均伴有单脐动脉和严重羊水过少。对于出现严重羊水过少和宫内生长迟缓的病例,产前应怀疑美人鱼综合征,以便早期诊断并对妊娠进行适当管理。