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进行性骨化性纤维发育不良:一组伴有放射学表现的病例

Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings.

作者信息

Malik Ipanshu, Sharma S C, Padhiyar Mahipal Ajitsinh, Rawal Nitin, Mukherjee Mayukh

机构信息

Department of Orthopaedics, SGT Medical College Hospital and Research Institute, Gurugram, Haryana, India.

出版信息

J Orthop Case Rep. 2022 Nov;12(11):9-13. doi: 10.13107/jocr.2022.v12.i11.3394.

Abstract

INTRODUCTION

It is an autosomal dominant genetic disease presented with heterotopic ossification of connective tissues after birth and a defect of the big toes. One in ten million births is affected by it worldwide. As a result, diagnosis and management of fibrodysplasia ossificans progressiva (FOP) can be delayed or misdiagnosed. Clinical assessment, radiographic examination, and genetic study of the Activin receptor Type 1A gene are among the diagnostic techniques used to identify this disease.

CASE REPORT

We are presenting three female cases having FOP in this article of different age groups. It presented with multiple non-tender lumps on patients' paravertebral region along with bilateral hallux valgus. The radiograph revealed ossifications of soft tissue involving spine and neck. The patient was given a conservative treatment approach and told what could be done to prevent flare-ups.

CONCLUSION

Being a rare, progressive, and often misdiagnosed condition, early diagnosis is advocated. Long-term physiotherapy and muscle trauma prevention can delay it as much as possible to prevent future disabilities.

摘要

引言

这是一种常染色体显性遗传病,出生后结缔组织出现异位骨化,且大脚趾有缺陷。全球每千万例出生人口中就有一人受其影响。因此,进行性骨化性纤维发育不良(FOP)的诊断和管理可能会延迟或误诊。临床评估、影像学检查以及激活素受体1A型基因的遗传学研究是用于识别该疾病的诊断技术。

病例报告

在本文中,我们呈现了三名不同年龄组患FOP的女性病例。患者椎旁区域出现多个无压痛肿块,同时伴有双侧拇外翻。X线片显示软组织骨化累及脊柱和颈部。对患者采取了保守治疗方法,并告知其预防病情发作的措施。

结论

作为一种罕见、进行性且常被误诊的病症,提倡早期诊断。长期物理治疗和预防肌肉创伤可尽可能延缓病情,以防止未来出现残疾。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/819c/10066667/372cbb2767ca/JOCR-12-9-g001.jpg

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