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Mermaid Syndrome: A Case Report of a Rare Congenital Anomaly in Full-Term Neonate with Thumb Deformity

机译:人鱼综合症:足畸形足月新生儿罕见先天性异常的病例报告

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摘要

The mermaid syndrome (sirenomelia) is an extremely rare anomaly, an incidence of 1 in 100,000 births, in which a newborn born with legs joined together featuring a mermaid-like appearance (head and trunk like humans and tail like fish), and in most cases die shortly after birth. Gastrointestinal and urogenital anomalies and single umbilical artery are clinical outcome of this syndrome. There are two important hypotheses for pathogenesis of mermaid syndrome: vitelline artery steal hypothesis and defective blastogenesis hypothesis. The cause of the mermaid syndrome is unknown, but there are some possible factors such as age younger than 20 years and older than 40 years in mother and exposure of fetus to teratogenics. Here, we introduced 19-year-old mother's first neonate with mermaid syndrome. The mother had gestational diabetes mellitus and neonate was born with single lower limb, ambiguous genitalia, and thumb anomalies, and 4 days after birth, the neonate died due to multiple anomalies and imperforated anus.
机译:人鱼综合症(sirenomelia)是一种极为罕见的异常,每100,000例婴儿中就有1例发生,其中新生儿的双腿合并在一起,具有类似美人鱼的外观(头和尾巴像人一样,尾巴像鱼一样),并且在大多数情况下病例出生后不久死亡。胃肠道和泌尿生殖道异常以及单条脐动脉是该综合征的临床结果。美人鱼综合症的发病机理有两个重要的假设:卵黄动脉偷窃假说和成胚细胞假说假说。美人鱼综合症的病因尚不清楚,但有一些可能的因素,例如母亲的年龄小于20岁且年龄大于40岁,以及胎儿接触致畸物。在这里,我们介绍了19岁母亲的第一个患有美人鱼综合症的新生儿。母亲患有妊娠糖尿病,新生儿出生时下肢单一,生殖器模棱两可,拇指异常,出生后四天,新生儿因多处异常和肛门穿孔而死亡。

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