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A Case of Sirenomelia: A Mermaid Baby

机译:一个海妖的案例:一个美人鱼宝宝

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Introduction Sirenomelia, also known as mermaid syndrome, is a very rare fatal congenital abnormality in which the legs are fused together, giving them the appearance of a mermaid’s tail. It is commonly associated with abnormal kidney development, genital and rectal abnormalities. Only a handful of cases have been reported in other parts of the world and is very rare in India too. This case was diagnosed postnatal in a tertiary hospital in Nagpur city of central India. Case Presentation A preterm male baby of weight 1.1?kg was delivered by lower-segment caesarean section to a primigravida of age 26?years. Baby presented with fusion of the entire lower limbs, imperforate anus, indiscernible genital structures, single umbilical artery and a neural tube defect. He cried spontaneously with APGAR scores 5 at 0 and 8 at 5?min and expired after 4?h. His mother had a family history of diabetes in her paternal side. The post-mortem chromosomal studies depicted 47XXY, i.e., Klinefelter’s syndrome. Conclusions Sirenomelia is a rare occurrence and this case gives us valuable information about the clinical presentation of it at birth and subsequent post-mortem chromosomal findings could indicate a possible genetic association.
机译:简介Sirenomelia,也称为美人鱼综合症,是一种非常罕见的致命先天性畸形,双腿融合在一起,使它们看起来像美人鱼的尾巴。通常与肾脏发育异常,生殖器和直肠异常有关。在世界其他地区仅报道了少数病例,在印度也很少见。该病例在印度中部那格浦尔市一家三级医院诊断为产后。病例介绍将体重为1.1?kg的早产男婴通过下段剖腹产分娩至26岁的初产妇。婴儿表现出整个下肢融合,肛门无孔,难以辨认的生殖器结构,单条脐动脉和神经管缺损。他自发地哭泣,APGAR在0?5得分为5,在5?min得分为8,并在4?h之后死亡。他的母亲父亲一方患有糖尿病家族病史。验尸后的染色体研究显示47XXY,即克林费尔特氏综合征。结论肺炎小球菌很少见,此病例为我们提供了有关其出生时的临床表现的有价值的信息,随后的验尸后染色体发现可能表明可能存在遗传关联。

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