Atypical Clinical Presentation and Diagnostic Difficulties of a Rare Disease: Fibrodysplasia Ossificans Progressiva

Abstract

Fibrodysplasia ossificans progressiva, also known as Münchmeyer's disease, is a rare autosomal dominant genetic disorder characterized by progressive heterotopic ossification, ultimately resulting in a "stone man" phenotype. We present the case of a male infant who exhibited musculocutaneous manifestations during the neonatal period.