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Acta Radiológica Portuguesa
Print version ISSN 2183-1351
Abstract
SOUSA, Célia; VIAMONTE, Bárbara and VIEIRA, Alberto. Fibrodysplasia Ossificans Progressiva: Stone Man Syndrome. Acta Radiol Port [online]. 2020, vol.32, n.2, pp.31-33. Epub July 08, 2021. ISSN 2183-1351. https://doi.org/10.25748/arp.19276.
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare and severely disabling genetic disease characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone. Radiologic evaluation is essential for accurate diagnosis, and also for assessing progression and response to therapy. We present a case and describe the imaging features of a 22-year-old woman with FOP.
Keywords : Fibrodysplasia ossificans progressiva; Genetic disorder; Heterotopic ossification..