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孤立性双侧上肢缺如——一例罕见病例报告

Isolated Bilateral Upper Limb Amelia - A Rare Case Report.

作者信息

Afaque Syed Faisal, Srivastava Shubham, Yadav Ajeet Kumar

机构信息

Department of Paediatric Orthopaedics, King George's Medical University, Lucknow, Uttar Pradesh, India.

出版信息

J Orthop Case Rep. 2024 Mar;14(3):10-12. doi: 10.13107/jocr.2024.v14.i03.4268.

DOI:10.13107/jocr.2024.v14.i03.4268
PMID:38560324
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10976534/
Abstract

INTRODUCTION

Congenital upper limb amelia is one of the extremely rare conditions. It is defined as a complete absence of upper limbs. It may present as isolated or with other associated anomalies.

CASE REPORT

We present a case of a 2-year-old male child with congenital complete absence of bilateral upper limb. This male child was born after four female children. With the advancement in modern-era prenatal diagnostic facilities and a better understanding of fetal-maternal drug pharmacology, such cases are rare entity.

CONCLUSION

Amelia is a very rare and challenging situation for clinicians. Regular prenatal checkup and knowledge of maternal and fetal drug interactions during pregnancy are key factors for prevention.

摘要

引言

先天性上肢缺如极为罕见。它被定义为上肢完全缺失。可表现为孤立性的，也可伴有其他相关畸形。

病例报告

我们报告一例2岁男性儿童先天性双侧上肢完全缺如的病例。该男童是四个女童之后出生的。随着现代产前诊断设施的进步以及对母胎药物药理学的更好理解，此类病例实属罕见。

结论

上肢缺如对临床医生来说是一种非常罕见且具有挑战性的情况。定期产前检查以及了解孕期母胎药物相互作用是预防的关键因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5457/10976534/7c2f9a20450f/JOCR-14-10-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5457/10976534/75463ffaa995/JOCR-14-10-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5457/10976534/7c2f9a20450f/JOCR-14-10-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5457/10976534/75463ffaa995/JOCR-14-10-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5457/10976534/7c2f9a20450f/JOCR-14-10-g002.jpg

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Amelia: incidence and associated defects in a large population.无肢畸形：大群体中的发病率及相关缺陷
Teratology. 1990 Jan;41(1):23-31. doi: 10.1002/tera.1420410104.
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Recognition of thalidomide defects.对沙利度胺缺陷的识别。
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