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并腿畸形:一例病例报告。

Sirenomelia: A case report.

作者信息

Tamene Ayanaw, Molla Mandefro

机构信息

Department of Pediatrics and Child Health, College of Medicine and Health Sciences, Bahir Dar University, Bahir Dar, Ethiopia.

Department of Gynecology and Obstetrics, Addis Alem Hospital, Bahir Dar, Ethiopia.

出版信息

SAGE Open Med Case Rep. 2022 Apr 14;10:2050313X221092560. doi: 10.1177/2050313X221092560. eCollection 2022.

DOI:10.1177/2050313X221092560
PMID:35449530
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9016573/
Abstract

Sirenomelia also known as mermaid syndrome is a partial or complete fusion of lower extremities associated with visceral anomalies. It is a rare anomaly with a poor prognosis. Maternal age less than 20 years, maternal diabetes mellitus, and monozygotic twinning are some of the known risk factors. Diagnosis can be made via antenatal ultrasound or typical physical appearance after birth. A 2200 g baby was born from 18-year-old non-consanguineous mother via assisted breech delivery. The baby had fused lower limbs with 10 toes, absent external genitalia, and a single umbilical artery. It was small for gestational age. The baby was passed away after 30 min of birth. Young maternal age (18 years) was the identified risk factor for sirenomelia in this case. We recommend an early routine ultrasound anomaly scan in all pregnant women particularly for early detection and termination of pregnancy as the prognosis is poor. Avoiding teenager pregnancy and strict control of blood sugar in diabetic mothers can decrease this anomaly.

摘要

美人鱼综合征也被称为并腿畸形,是一种下肢部分或完全融合并伴有内脏异常的疾病。它是一种罕见的异常情况,预后较差。母亲年龄小于20岁、母亲患有糖尿病以及单卵双胎是一些已知的风险因素。诊断可以通过产前超声或出生后的典型外貌来进行。一名体重2200克的婴儿由一位18岁非近亲结婚的母亲经臀位助产分娩出生。该婴儿下肢融合,有10个脚趾,外生殖器缺失,且只有一条脐动脉。其出生时孕周小于胎龄。婴儿出生30分钟后死亡。年轻的母亲年龄(18岁)是该病例中美人鱼综合征的确定风险因素。我们建议所有孕妇进行早期常规超声异常扫描,特别是为了早期发现并终止妊娠,因为预后较差。避免青少年怀孕以及严格控制糖尿病母亲的血糖可以减少这种异常情况。

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本文引用的文献

1
Sirenomelia: two case reports.并肢畸形:两例报告。
J Med Case Rep. 2021 Apr 26;15(1):217. doi: 10.1186/s13256-021-02699-4.
2
Successful Expectant Management of the Anomalous Fetus with Sirenomelia in Twin Pregnancy: A Case Report and Literature Review.双胎妊娠中合并美人鱼综合征异常胎儿的成功期待管理:一例报告及文献综述
Int Med Case Rep J. 2021 Apr 9;14:229-232. doi: 10.2147/IMCRJ.S300318. eCollection 2021.
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Sirenomelia (Mermaid Syndrome): A Case Report.美人鱼综合征(并腿畸形):病例报告。
Turk Patoloji Derg. 2020;36(3):256-260. doi: 10.5146/tjpath.2020.01491.
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Sirenomelia, case report and review of the literature.美人鱼综合征,病例报告及文献复习。
J Matern Fetal Neonatal Med. 2022 Mar;35(6):1203-1206. doi: 10.1080/14767058.2020.1742693. Epub 2020 Mar 26.
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Sirenomelia associated with an anterior abdominal wall defect: a case report.合并前腹壁缺损的并腿畸形:一例报告
J Med Case Rep. 2019 Jul 13;13(1):213. doi: 10.1186/s13256-019-2162-0.
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Mermaid Syndrome: A Case Report in Mauritius.美人鱼综合征:毛里求斯的一例病例报告。
Cureus. 2018 Feb 20;10(2):e2210. doi: 10.7759/cureus.2210.
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Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report.新生儿下肢融合合并严重泌尿生殖系统畸形,一种罕见的先天性临床综合征:病例报告
Int Med Case Rep J. 2017 Sep 21;10:313-317. doi: 10.2147/IMCRJ.S139067. eCollection 2017.
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Sirenomelia associated with Hypoplastic Left Heart in a Newborn.新生儿中与左心发育不全相关的美人鱼综合征。
Balkan J Med Genet. 2017 Jun 30;20(1):91-94. doi: 10.1515/bjmg-2017-0001.
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Sirenomelia in a Cameroonian woman: a case report and review of the literature.喀麦隆一名女性的并腿畸形:病例报告及文献综述
F1000Res. 2012 Jul 26;1:6. doi: 10.12688/f1000research.1-6.v2. eCollection 2012.
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Arch Gynecol Obstet. 2013 Jul;288(1):3-11. doi: 10.1007/s00404-013-2847-3. Epub 2013 Apr 27.