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Acta Radiológica Portuguesa
versão impressa ISSN 2183-1351
Resumo
SOUSA, Célia; VIAMONTE, Bárbara e VIEIRA, Alberto. Fibrodysplasia Ossificans Progressiva: Stone Man Syndrome. Acta Radiol Port [online]. 2020, vol.32, n.2, pp.31-33. Epub 08-Jul-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.
Palavras-chave : Fibrodysplasia ossificans progressiva; Genetic disorder; Heterotopic ossification..