Three to 15 per cent of the patients with plummervinson syndrome, mostly women between 15 and 50 years of age, have been reported to develop esophageal or pharyngeal cancer 15,16. Abstract ollier s disease is a multiple enchondromatose which constitutes 3% of benign bone tumors. The combination of multiple enchondromata with haemangiomata and phleboliths is known as maffucci syndrome. You can speak with a gard information specialist by email or through our phone line 18882052311 which is open mondaytofriday from 12pm6pm eastern time. Hurler syndrome genetic and rare diseases information. Three to 15 per cent of the patients with plummervinson syndrome, mostly women between 15 and 50 years of age, have been reported to.
Download as pptx, pdf, txt or read online from scribd. Enfermedades generalizadas hueso enfermedades y trastornos. With its fluctuating activity, prolonged remission without treatment is uncommon. Nord, a 501c3 organization, is the leading patient advocacy organization dedicated to improving the lives of individuals and families living with rare diseases. Gratuit moulting wikipedia in biology, moulting british english, or mol. Severe extraarticular manifestations of rheumatoid. Anomalias vasculares superficiales pdf free download. The majority of cases have been sporadic but a familial tendency has been reported in a few instances. Home nord national organization for rare disorders. The gard contact center is open and ready to address your concerns and questions about rare or genetic diseases. If you have problems viewing pdf files, download the latest version of adobe reader. Use the contact form below to send your question to a gard information specialist. Ho 32 anni e non sono seguita da nessuno specialista. Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors enchondroma develop close to growth plate cartilage.
At mr imaging, appears as a hypointense lesion on t1 and moderately hyperintense on t2weighted images. Contact gard genetic and rare diseases information center. Dambrosi, specializzando in ortopedia e collaboratore della dr. Cirugia ortop dica y traumatolog a free download pdf ebook. For language access assistance, contact the ncats public information officer. The differential diagnosis between olliers disease and maffuccis syndrome and the causes of these conditions are not clear. Pdf the multiple enchondromatosis is a rare disease with some cartilaginous tumors in the short tubular bones, long tubular bones and flat. Contact gard genetic and rare diseases information.
Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Abstract olliers disease is a multiple enchondromatose which constitutes 3% of benign bone tumors. References to any names, marks, products, or services of third parties or hypertext links to third. Trichomegalyretina pigmentary degenerationdwarfism syndrome. Scribd is the worlds largest social reading and publishing site. To the best of our knowledge, only twelve similar cases have been reported in the literature. Poster actions add bookmark contact presenter send to a friend download pdf. Semiologia del aparato locomotor free download pdf ebook. Nominally, the disease consists of multiple enchondromas which usually develop in childhood. Maffucci s syndrome complicated by intracranial mafiadoc. Any information contained in this pdf file is automatically generated from digital material submitted to epos by third parties in the form of scientific presentations. Jan 12, 2016 this feature is not available right now.