Ollier disease genetic and rare diseases information. Instead, the genetic mutations that are causing the symptoms of ollier. Enchondromatosis ollier disease, maffucci syndrome is not caused by the pthr1 mutation. Ollier disease is a rare sporadic nonhereditary skeletal disorder in which typically benign. Ollier disease enchondromatosis maffucci syndrome chondrosarcoma. Currently, there are no forms of treatment for the underlying condition of ollier disease but. Olliers disease characterized by multiple skeletal enchondroma is a rare disease of unknown etiology and the diagnosis is based on radiographs.
We include 16 cases of olliers and 1 of maffuccis syndrome. Seventeen cases of ollier disease were treated between 1976 and 2006. Typically, ollier disease is caused by mutations in one of three genes pth1r, idh1, or idh2. Maffucci syndrome and ollier s disease conference 2014 duration.
471 842 1666 1385 1270 420 1226 376 1082 1038 1608 704 118 522 758 1589 978 1493 355 372 77 1371 767 12 1346 71 493 64 523 167 1008 1471 1310 788 768 1478 95 406