The terminal period findings of late-diagnosed fibrodysplasia ossificans progressiva

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant rare disease characterized by foot deformities and concomitant hetero-topic ossifications. Theoretically, in the absence of early diagnosis and medication, the patient’s outcome will be poor. The patients are usually diagnosed at an early age. Hence, encountering a non-treated and ter-minal-period patient is rare. Our case was unique because it showed the clinical picture and atypical radiological distribution of a 20-year-old, terminally ill untreated female patient. She had hallux valgus, het-erotopic ossifications and multiple osteochondromas that were detected in the right clavicula, the posterior arch of the 9th rib, the bilateral tibia and fibula. Atypically, heterotopic ossifications were not present in the soft tissues of the neck. Hand deformity, cardiac anomaly, or mental retardation was not observed. It was a sporadic case. The presentation with neurological symptoms was also atypical.