进行性骨化性纤维发育不良1例并简要文献复习

S. M, Y. Siddiqui, Mazhar Abbas Julfiqar, Sherwani Mka
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引用次数: 0

摘要

进行性骨化纤维发育不良(FOP)是一种异常罕见的常染色体显性遗传疾病,其特征是骨骼发育缺陷,表现为先天性大脚趾畸形和先天性异位软骨内成骨的进行性诱导。在疾病早期,FOP患者经常被误诊为软组织肉瘤或侵袭性幼年纤维瘤病,因此有时需要进行侵入性手术,这通常会导致疾病进程加快。因此,早期正确诊断进行性骨化性纤维发育不良是必要的,以防止进一步的医源性损伤。本病例研究旨在强调进行性骨化性纤维发育不良的临床特点、诊断和治疗的难点,并简要回顾文献。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Fibrodysplasia ossificans progressiva - a case report with brief literature review
Fibrodysplasia ossificans progressiva (FOP) is an exceptionally uncommon autosomal dominant genetic disorder characterized by defects in skeletogenesis manifesting as congenital malformations of the great toes and progressive postnatal induction of disabling ectopic endochondral osteogenesis. During early course of disease patients of FOP are often misdiagnosed as having soft tissue sarcoma or aggressive juvenile fibromatosis and hence sometimes undergo invasive procedures that usually lead to the speeding up of disease process. Therefore early correct diagnosis of fibrodysplasia ossificans progressiva is necessary to prevent additional iatrogenic insult. The case study is being presented to highlight the clinical features of fibrodysplasia ossificans progressiva, difficult aspect of diagnosis and management with brief literature review.
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