Fibrodysplasia Ossificans Progressiva- A case report of exceedingly rare cause of heterotropic ossification

Yam Hock Ng, Sa’adon B. Ibrahim, C. Ng, Y. Chai
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引用次数: 0

Abstract

Fibrodysplasia ossificans progressiva is an exceedingly rare genetic disorder that causes the formation of the second skeleton after birth by the heterotopic bone. It is commonly misdiagnosed and treated inappropriately. Although there is no cure for the disease, early and correct diagnosis may slow the disease progress, avoid unnecessary intervention and in turn improve the quality of life. We report a 13 years old girl with fibrodysplasia ossificans progressiva who presented with progressive stiffness of the bilateral hips after a trivial fall. Further history has found progressive joint stiffness involving multiple joints. She had not been diagnosed even though multiple encounters with the health facility for similar complaints. This has highlighted the importance of awareness of the disease among healthcare personnel.
进行性骨化性纤维发育不良-异向骨化的罕见病因1例报告
进行性骨化纤维发育不良是一种非常罕见的遗传性疾病,它会导致出生后异位骨形成第二骨骼。它通常被误诊和治疗不当。虽然这种疾病无法治愈,但早期和正确的诊断可能会减缓疾病的进展,避免不必要的干预,从而提高生活质量。我们报告一位13岁的进行性骨化纤维发育不良的女孩,她在轻微跌倒后表现为双侧髋关节进行性僵硬。进一步的研究发现累进性关节刚度涉及多个关节。尽管她多次因类似的投诉与卫生机构接触,但仍未得到诊断。这突出了保健人员对这种疾病的认识的重要性。
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