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进行性骨化性纤维发育不良:两例报告。

Fibrodysplasia ossificans progressiva: Two case reports.

作者信息

Yaynishet Yodit Abraham, Salah Fathia Omer, Gebregiorgis Bemnet Taye, Mume Abdulmejid Suleyman, Damtew Henok Dessalegn, Amare Tinsae Zelalem, Manaleh Tilahun Mengistu

机构信息

Addis Ababa University, College of Health Sciences, Department of Radiology, Addis Ababa, Ethiopia.

出版信息

Radiol Case Rep. 2024 May 3;19(8):2973-2977. doi: 10.1016/j.radcr.2024.04.019. eCollection 2024 Aug.

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare and progressively debilitating disorder affecting 1 in 2 million individuals. It is characterized by the progressive ossification of soft tissues into ectopic bone and congenital malformations of the great toes. FOP leads to significant disability and can result in death due to thoracic insufficiency syndrome. These case reports examine the presentation, diagnosis, and management of FOP, highlighting the diagnostic challenges inherent in managing such rare conditions because of their unique clinical features. They underscore the need for increased awareness among healthcare practitioners to ensure early diagnosis and the implementation of effective management strategies.

摘要

进行性骨化性纤维发育不良(FOP)是一种罕见且逐渐使人衰弱的疾病,每200万人中就有1人患病。其特征是软组织逐渐骨化形成异位骨以及大脚趾先天性畸形。FOP会导致严重残疾,并且可能因胸廓发育不全综合征而致死。这些病例报告探讨了FOP的临床表现、诊断和治疗,突出了由于此类罕见病症独特的临床特征,在管理过程中所固有的诊断挑战。它们强调了医疗从业者提高认识的必要性,以确保早期诊断并实施有效的管理策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0537/11087907/8e29aab1821b/gr1.jpg

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