41. 208.55.6.12/o6/93.htm enchondromatosis (Ollier andMaffucci)enchondromatosis (Ollier andMaffucci). Cases. Case Title, Source. MAFFUCCI SYNDROME. DYSCHONDROSIS, South Bank University. MULTIPLE enchondromatosis, CWRU. http://208.55.6.12/o6/93.htm

42. PharmGKB: Enchondromatosis enchondromatosis. Alternate Names Disease, Ollier; Disease, Ollier s; Enchondroma, Multiple; Enchondromas, Multiple; Enchondromatoses http://www.pharmgkb.org/do/serve?objId=PA444029&objCls=Disease

43. :: Ez2Find :: Ollier Disease Virtual Children s Hospital enchondromatosis Site Info - Translate - Open New Window Clinical presentation, etiology and imaging findings. http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Ollier Disease Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Invisible Web Metasearch MayoClinic Diseases Yahoo! Health HealthFinder Mental Health InfoSource ... Healthwell Guides Ollier Disease ez2Find Home Directory Health Conditions and Diseases ... Rare Disorders : Ollier Disease Related Categories Health: Conditions and Diseases: Musculoskeletal Disorders Web Sites NORD: Ollier Disease [Site Info] [Translate] [Open New Window] Sample report, plus links to organisations. [Fee required for full report] URL: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ollier%20Disease Virtual Children's Hospital: Enchondromatosis [Site Info] [Translate] [Open New Window] Clinical presentation, etiology and imaging findings.

44. Ollier Disease Virtual Children s Hospital A look at enchondromatosis by Michael P. D Alessandro, MD Includes clinical presentation, etiology and imaging findings. http://www.thenewhealthfind.com/Health/ConditionsandDiseases/RareDisorders/Ollie

Directory Home Health Conditions and Diseases Rare Disorders : Ollier Disease (3) See Also: Health: Conditions and Diseases: Musculoskeletal Disorders Ollier/Maffucci Self Help Group - Information about the organization, and the diseases Olliers Disease and Maffucci Syndrome. Includes activities, services, membership, forums and chats. NORD - Ollier Disease - A look at the alternate names, a general discussion and resources. Virtual Children's Hospital - A look at Enchondromatosis by Michael P. D'Alessandro, M.D. Includes clinical presentation, etiology and imaging findings. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Quick Links crones disease weight loss spa Cod Liver Oil all about proteins ... creatine information The New Health Directory Site Map Privacy Contact Advertise ... Health Directory

45. Startplane /Health/Conditions_and_Diseases/Rare_Disorders/Ollier_Disease Virtual Children s Hospital enchondromatosis Clinical presentation, etiology and imaging findings. This category needs an editor. http://www.startplane.com/Health/Conditions_and_Diseases/Rare_Disorders/Ollier_D

Start Plane About Us Free Webpages Top Health Ollier Disease Top Ollier Disease Sites Your Site Here! - Get your site listed on StartPlane! The #1 performance based directory online! See also: Top/Health/Conditions and Diseases/E Top/Health/Conditions and Diseases/O Links NORD: Ollier Disease - Sample report, plus links to organisations. [Fee required for full report] Ollier/Maffucci Self Help Group - Goals and activities of the organisation, plus messages and resources. Virtual Children's Hospital: Enchondromatosis - Clinical presentation, etiology and imaging findings. This category needs an editor Last Updated: 2004-01-05 10:58:14 Search: search the entire directory search this category only Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The content of this directory is based on the Open Directory and may have been modified by DWodp Powered by DWodp pro Dominion Web

46. Orthoguide.com EnchondromatosisEnchondroma Enchondroma 4-3114 To See Images Firs Search results for enchondromatosis . Orthoguide Matches 1 1 of 1. Related Fields Radiology Search AltaVista for more on enchondromatosis . http://www.mymedline.com/ortho/Enchondromatosis.php3

Search results for "Enchondromatosis" Orthoguide Matches 1 - 1 of 1 Related Fields: Radiology: Enchondroma - images/description. [http://www.sbu.ac.uk/~dirt/museum/p4-3114.html] Search AltaVista for more on 'Enchondromatosis' Global Search Add Url Free Medline ... Search Enter Keywords to Search and Your Choice of Search Arguments Or And Match entire phrase Orthoguide.com

47. Genetic And Rare Diseases Information Center - Office Of Rare Diseases The Information Center can be reached at 888205-2311 (phone), 888-205-3223 (TTY), or e-mail GARDinfo@nih.gov. Disease enchondromatosis (benign). http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=6335

48. Genetic And Rare Diseases Information Center - Office Of Rare Diseases The Information Center can be reached at 888205-2311 (phone), 888-205-3223 (TTY), or e-mail GARDinfo@nih.gov. Disease enchondromatosis dwarfism deafness. http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=294

49. Enchondromatosis : On Medical Dictionary Online II. Congenital and Hereditary Bone Disorders enchondromatosis is a rare disorder of skeletal development characterized by the presence of multiple circumscribed foci or masses of cartilage in the interior http://www.online-medical-dictionary.org/?q=Enchondromatosis

50. VII. Bone Tumors H E. The histopathological appearance of solitary enchondroma is similar to that of enchondromatosis, a developmental disorder of cartilage of bone (refer to http://edcenter.med.cornell.edu/CUMC_PathNotes/Skeletal/Bone_07.html

BONE by Robert C. Mellors, M.D., Ph.D. VII. BONE TUMORS 1. Introduction Table: Common Location of Tumors and Tumor-like Lesions of Bone Focal Lesion Diffuse Lesion Central (Medullary) Eccentric (Cortical/Juxtacortical) Tumorlike Lesions Solitary bone cyst* (metaphysis) Nonossifying fibroma* (metaphysis) Osteoporosis Fibrous dysplasia* (shaft) Aneurysmal bone cyst* (metaphysis) Osteomalacia Eosinophilic granuloma* (shaft) Exuberant fracture callus Hyperparathyroidism Hyperparathyroidism ("brown tumors") Myositis ossificans (juxtacortical) Paget's disease of bone Gaucher's disease Benign Neoplasms Enchondroma (metaphysis) Osteochondroma (metaphysis) Giant cell tumor (also malignant) (metaphysis/epiphysis) Chondroblastoma* (epiphysis) Malignant Neoplasms Central chondrosarcoma (diaphysis) Osteogenic sarcoma* (metaphysis) Osteogenic sarcoma* (osteolytic) Medullary fibrosarcoma Peripheral chondrosarcoma Multiple myeloma (diaphysis) Metastatic carcinoma Ewing's sarcoma* (diaphysis) Metastatic carcinoma * Predilection for children and teenagers T here are, of course, many other features to be considered in the radiological analysis of a bone lesion, among them: the presence or absence of mineralization of the tumor matrix; whether the lesion causes bone destruction (osteolytic lesion) or bone production (osteosclerotic lesion) or has a multiloculated "soap bubble" appearance (Table); presence of reactive periosteal new bone formation; destruction of cortex and extracortical tumor extension.

51. Penn State Faculty Research Expertise Database (FRED) , Benign growths of cartilage in the metaphyses of several bones. Related Terms,......Faculty Research Expertise Database. enchondromatosis. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D004687

52. Session IV Abstracts Hedgehog and Parathyroid hormone related protein signaling in enchondromatosis”, Enchondromas are common benign cartilage tumors of bone. http://www.geocities.com/mhecoalition/Session_IV_Abstracts.html

Session IV: Bone Development, Repair and Related Disorders I Henry Kronenberg, MD, Professor of Medicine, Chief, Endocrine Unit, Massachusetts General Hospital and Harvard Medical School “Actions of parathyroid hormone-related protein on the growth plate” Targets downstream of Gs are still uncertain. One likely target is the cdk inhibitor, p57. Knockout of p57 rescues much of p57 mRNA and protein. Other cell cycle proteins and transcription factors are plausible mediators of PTHrP action, as well. Benjamin Alman, MD, FRCSC, Assistant Professor, Canadian Research Chair, Program in Developmental Biology and Division of Orthopaedic Surgery, University of Toronto, The Hospital for Sick Children “Hedgehog and Parathyroid hormone related protein signaling in enchondromatosis” Jacqueline Hecht, PhD , Professor of Pediatrics, University of Texas Medical School at Houston, University of Texas Houston Medical Center “EXTI and EXT2 Germline Mutations are the Most Common Cause of Diminished Heparan Sulfate in Exostoses Growth Plates” Jacqueline T Hecht (1,2*), Elizabeth Hayes (1), Catherine R. Hall (1), Hong Li (1), Richard Haynes (2), William Cole (3), Robert Long (4), Mary C. Farach-Carson (4). And Daniel D. Carson (4)

53. Reflections-Alman And Kaplan growth plate. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical http://www.geocities.com/mhecoalition/Reflections_Alman_Kaplan.html

An integral part of the Conference were speakers on research being done on related disorders, including Ollier and Maffucci (“O/M”) and Fibrodysplasia Ossificans Progressiva (“FOP”). By sharing information and ideas, we hope that one day better treatments and ultimately cures can be found for these “orphan” diseases that affect the lives of so many. Note: Enchondromas, the benign tumors which occur in O/M, are different from the osteochondromas, or exostoses of MHE, as is the research being done on each of these diseases. Enchondromas are common benign cartilage tumours of bone that usually occur next to the growth plate. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchrondromas include skeletal deformity and the potential for malignant change to chondrosarcoma, a form of musculoskeletal cancer. We discovered a mutation in the signaling pathway that controls how new bone grows. Using a mouse model, we found that this changes the way the cells develop, causing tumours. This discovery suggests that an agent that could block this pathway could be an effective therapy for these tumours. All of the long bones in the body grow from cartilage cells at the ends of the bones called growth plates. Enchondromas occur next to these growth plates, and this is what led us to look for the possibility that something abnormal in the growth plate cells caused enchondromatosis.

54. FORMULAIRE INSCRIPTION RECHERCHE WWW.LACHAINETTE.COM Contacts Rare disease selected enchondromatosis Id, First name, Country, Web. 1194, sandrine, FRANCE, http://www.lachainette.com/US/ContactsPathologie.php?Action=contacter&Id=1815

55. Search By Specialty Ollier Disease from Linkspider UK Health Directory and resources. Virtual Children s Hospital enchondromatosis Clinical presentation, etiology and imaging findings. NORD Ollier http://www.ramex.com/seek.cgi?1,10,,,enchondromatosis

56. OMIM - ENCHONDROMATOSIS, MULTIPLE http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166000

57. OMIM - ENCHONDROMATOSIS, MULTIPLE http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=framedSynopsis&id=166000

58. Connective Tissue Oncology Society - Poster enchondromatosis CAUSED BY A MUTANT TYPE I PTH/PTHRP RECEPTOR Sevan Hopyan 1 , Nalan Gokgoz 1 , Raymond Poon 2 , Robert S. Bell 1 , William G. Cole 2 , Irene L http://www.ctos.org/meeting/2001/posters/poster75.html

Connective Tissue Oncology Society 2001 CTOS Annual Meeting Posters— Biology ENCHONDROMATOSIS CAUSED BY A MUTANT TYPE I PTH/PTHRP RECEPTOR Sevan Hopyan , Nalan Gokgoz , Raymond Poon , Robert S. Bell , William G. Cole , Irene L. Andrulis , Benjamin A. Alman , Jay S. Wunder Musculoskeletal Oncology Unit and Program in Molecular Biology and Cancer, Mount Sinai Hospital, Program in Developmental Biology, The Hospital for Sick Children OBJECTIVE: METHODS: RESULTS: We showed that key IHH-PTHrP pathway members are expressed in enchondromas and chondrosarcomas. The IHH and PTHrP signalling pathways were functional, but the feedback loop regulating IHH was dysregulated in these lesions. We identified a mutant PTHR1 in two patients with enchondromatosis. This mutant lowered baseline cAMP level and abolished IP3 accumulation in vitro. Expression of the mutant, but not WT, PTHR1 in the growth plates of transgenic mice resulted in the appearance of multiple enchondromas. These enchondromas were likely caused by abnormal proliferation and not abnormal resorption, since growth plate zonal architecture was altered, but the number of TRAP positive cells, which resorb the growth plate, were not.

59. Medical.webends.com/kw/Enchondromatosis Ollier Disease The Family Village / Library / Ollier s Disease Related Disorders Multiple enchondromatosis, Multiple Cartilaginous, Ollier Osteochondromatosis, Unilateral http://medical.webends.com/kw/Enchondromatosis

60. ACR Learning File Web Sales. Click here for ordering information. Diagnosis Multiple enchondromatosis (Ollier s disease). Return to top. Copyright © 1994 http://www.learningfile.com/learning_file/viewcase.php?section=sk&case_num=118

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