Sirenomelia or “mermaid syndrome”: an extremely rare case in Indonesiasia

IF 0.2 Q4 PEDIATRICS
Q. Santosa, Setya Dian Kartika, Irwan Nuryadin, Alfi Muntafiah
{"title":"Sirenomelia or “mermaid syndrome”: an extremely rare case in Indonesiasia","authors":"Q. Santosa, Setya Dian Kartika, Irwan Nuryadin, Alfi Muntafiah","doi":"10.14238/pi63.1.2023.45-50","DOIUrl":null,"url":null,"abstract":"Sirenomelia, also known as mermaid syndrome, is a very rare lethal congenital disorder with multisystem malformations, characterized by fusion of the lower limbs. Here we report a preterm neonate with fusion of the lower limbs. The baby was born by cesarean section to a 27-year-old primigravida mother at 35 weeks and 3 days’ gestation. There was no maternal history of hypertension, heart disease, asthma, or diabetes mellitus. At birth, the infant did not cry, had weak tone, a heart rate (HR) of <60 beats per minute (BPM), an Apgar score of 1/2, and a birth weight of 2,300 grams. The infant had an imperforate anus and no urogenital openings or external genitalia. There was a small penis-like protrusion without an aperture, such as in cases of ambiguous genitalia. The two lower limbs were fused, with five toes on each foot. Despite neonatal resuscitation, the infant died within 75 minutes of birth. The child was diagnosed with sirenomelia. This case report aims to emphasize the importance of early prenatal diagnosis and education of the patient’s family.","PeriodicalId":19660,"journal":{"name":"Paediatrica Indonesiana","volume":"46 1","pages":""},"PeriodicalIF":0.2000,"publicationDate":"2023-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Paediatrica Indonesiana","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14238/pi63.1.2023.45-50","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0

Abstract

Sirenomelia, also known as mermaid syndrome, is a very rare lethal congenital disorder with multisystem malformations, characterized by fusion of the lower limbs. Here we report a preterm neonate with fusion of the lower limbs. The baby was born by cesarean section to a 27-year-old primigravida mother at 35 weeks and 3 days’ gestation. There was no maternal history of hypertension, heart disease, asthma, or diabetes mellitus. At birth, the infant did not cry, had weak tone, a heart rate (HR) of <60 beats per minute (BPM), an Apgar score of 1/2, and a birth weight of 2,300 grams. The infant had an imperforate anus and no urogenital openings or external genitalia. There was a small penis-like protrusion without an aperture, such as in cases of ambiguous genitalia. The two lower limbs were fused, with five toes on each foot. Despite neonatal resuscitation, the infant died within 75 minutes of birth. The child was diagnosed with sirenomelia. This case report aims to emphasize the importance of early prenatal diagnosis and education of the patient’s family.
美人鱼症或“美人鱼综合症”:在印度尼西亚和亚洲极为罕见的病例
Sirenomelia,也被称为美人鱼综合征,是一种非常罕见的致命先天性多系统畸形疾病,其特征是下肢融合。我们在此报告一例早产儿下肢融合。该婴儿在妊娠35周零3天时由一位27岁的初产妇剖宫产。母亲无高血压、心脏病、哮喘或糖尿病史。出生时,婴儿不哭,音弱,心率(HR) <60次/分钟(BPM),阿普加评分为1/2,出生体重为2300克。婴儿肛门不穿孔,无泌尿生殖器开口或外生殖器。有一个小的阴茎状突起,没有孔,如在不明生殖器的情况下。两条下肢融合在一起,每只脚上有五个脚趾。尽管进行了新生儿复苏,婴儿在出生后75分钟内死亡。这个孩子被诊断为肺炎。本病例报告旨在强调早期产前诊断和患者家属教育的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
0.40
自引率
0.00%
发文量
58
审稿时长
24 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信