Fibrodysplasia ossificans progressiva: Report of two cases

Citation
Je. Fonseca et al., Fibrodysplasia ossificans progressiva: Report of two cases, CLIN EXP RH, 18(6), 2000, pp. 749-752
Citations number
31
Categorie Soggetti
Rheumatology,"da verificare
Journal title
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
ISSN journal
0392856X → ACNP
Volume
18
Issue
6
Year of publication
2000
Pages
749 - 752
Database
ISI
SICI code
0392-856X(200011/12)18:6<749:FOPROT>2.0.ZU;2-N
Abstract
Fibrodysplasia Ossificans Progressiva (FOP) is a rare hereditary connective tissue disease, genetically inherited as an autosomal dominant tr ait with complete penetrance but variable expressivity. Onset is typically in child hood and progressive involvement of the spine and proximal extremities lead s to immobility and articular dysfunction. We present two cases with the ty pical features of FOP and a review of the pathogenesis, clinical manifestat ions and treatment options of this rare disease.