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Radiologia Brasileira

versão On-line ISSN 1678-7099

Resumo

ARAUJO JUNIOR, Cyrillo Rodrigues de et al. Fibrodysplasia ossificans progressiva: a case report and radiographic findings. Radiol Bras [online]. 2005, vol.38, n.1, pp.69-73. ISSN 1678-7099.  https://doi.org/10.1590/S0100-39842005000100014.

Fibrodysplasia ossificans progressiva is a rare hereditary connective tissue disease characterized by disseminated soft tissue ossification and congenital abnormality of the extremities. It is genetically inherited as a dominant trait with complete penetrance but variable expression. The onset takes place during childhood and the progressive involvement of the spine and proximal extremities leads to immobilization and articular deformity. We report a case of a 22-year-old male patient with typical symptoms of fibrodysplasia ossificans progressiva and discuss the new advances in the diagnosis and pathophysiology.

Palavras-chave : Fibrodysplasia ossificans progressiva; Myositis ossificans progressiva; Pathophysiology; Ossification; X-rays.

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