Suppr超能文献

一例并腿畸形:美人鱼宝宝

A Case of Sirenomelia: A Mermaid Baby.

作者信息

Khalatkar Pragati, Khalatkar Vasant, Khalatkar Aishwarya

机构信息

Colors Children Hospital, Panchasheel Sqr., Nagpur, 440001 India.

R-29, Khalatkar Hospital, Umred Road, Nagpur, 440009 India.

出版信息

J Obstet Gynaecol India. 2019 Apr;69(Suppl 1):10-13. doi: 10.1007/s13224-018-1099-3. Epub 2018 Feb 17.

Abstract

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.

摘要

引言

并腿畸形,也被称为美人鱼综合征,是一种极为罕见的致命先天性异常疾病,其特征是双腿融合在一起,形似美人鱼的尾巴。它通常与肾脏发育异常、生殖器和直肠畸形相关。世界其他地区仅报道过少数病例,在印度也极为罕见。该病例是在印度中部那格浦尔市的一家三级医院产后确诊的。

病例报告

一名体重1.1千克的早产男婴通过下段剖宫产出生,其母亲为26岁的初产妇。婴儿表现为整个下肢融合、肛门闭锁、生殖器结构难以辨认、单脐动脉以及神经管缺陷。他出生时自发啼哭,阿氏评分1分钟时为5分,5分钟时为8分,4小时后死亡。其母亲的父系家族有糖尿病家族史。尸检染色体研究显示为47XXY,即克兰费尔特综合征。

结论

并腿畸形实属罕见,该病例为我们提供了有关其出生时临床表现的宝贵信息,而后续的尸检染色体结果可能表明存在一种潜在的遗传关联。

相似文献

1
A Case of Sirenomelia: A Mermaid Baby.一例并腿畸形:美人鱼宝宝
J Obstet Gynaecol India. 2019 Apr;69(Suppl 1):10-13. doi: 10.1007/s13224-018-1099-3. Epub 2018 Feb 17.
3
Sirenomelia in Twin Pregnancy: A Case Report.双胎妊娠中的并腿畸形:一例报告
Cureus. 2023 Oct 31;15(10):e48040. doi: 10.7759/cureus.48040. eCollection 2023 Oct.
4
Mermaid syndrome: A case report in Somalia.美人鱼综合征:索马里的一例病例报告。
Ann Med Surg (Lond). 2022 Mar 29;76:103533. doi: 10.1016/j.amsu.2022.103533. eCollection 2022 Apr.
6
Mermaid syndrome: Rare genetic anomaly.美人鱼综合征:罕见的遗传异常。
J Pak Med Assoc. 2023 Apr;73(4):915-918. doi: 10.47391/JPMA.6073.
8
Sirenomelia: The mermaid syndrome: Report of two cases.并腿畸形:美人鱼综合征:两例报告。
J Nat Sci Biol Med. 2015 Jan-Jun;6(1):264-6. doi: 10.4103/0976-9668.149227.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验