进行性骨化性纤维发育不良-罕见病例

N. S. Dhaniwala, Venkatesh Dasari, Malhar Jadhav, Vrushabh Kumbhare
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引用次数: 1

摘要

进行性骨化纤维发育不良(FOP)也被称为进行性骨化肌炎,是一种非常罕见的致残性遗传病,其特征是大脚趾先天性畸形伴拇外翻和特定解剖模式的进行性异位骨化。这是一种罕见的疾病,全世界的患病率约为200万人中有1例。没有民族、种族、性别或地域倾向。进行性骨化性肌炎这一术语并不恰当,现在已不使用。本病例报告描述了一名一岁半儿童的罕见疾病,具有典型的临床表现和放射学特征。正在对该儿童进行随访,采取措施防止病情迅速发展。
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 rare case
Fibrodysplasia Ossificans Progressiva (FOP) also known as Myositis Ossificans Progressiva is a very rare and disabling genetic condition characterized by congenital malformation of the great toes with hallux valgus and progressive heterotopic ossification in specific anatomic pattern. It is a rare condition with worldwide prevalence of about 1 case in 2 million individuals. No ethnic, racial, sex or geographical predisposition is noted. Myositis Ossificans Progressiva term is misnomer and not used now. The case report herein describes this rare condition in a child of one and half year age having the classical clinical presentation and radiological features. The child is under followup with measures to prevent fast progression of the condition.
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