Fibrodysplasia ossificans progressiva: A case report

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an inherited disease in which progressive ossification of striated muscles leads to severe disability and there are associated characteristic congenital skeletal malformations. FOP used to be referred to as Stoneman′s Syndrome. There are no ethnic, racial, or religious patterns. Also, there are no other known examples in medicine of one normal organ system turning into another. The case we report herein is a 23-year-old male patient with the clinical and radiologic characteristics of FOP. The importance of this case was that in spite of beginning early with the typical presentation of FOP for a long time and the fact that the patient consulted with tertiary care specialists, the diagnosis had been missed. This indicates that the general physicians, radiologists and other specialists′ awareness and knowledge of FOP are low.

Keywords

• heterotopic ossification
• misdiagnosis
• mutation