61. Clinical Dysmorphology - UserLogin The final differential diagnosis was between enchondromatosis and the Generalized enchondromatosis in a boy with only platyspondyly in the father. http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200501000-00002.htm

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62. Clinical Dysmorphology - UserLogin enchondromatosis in association with platyspondyly was first documented by Spondyloenchondrodysplasia; enchondromatosis with severe platyspondyly in two http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200304000-00004.htm

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63. Ollier's Disease (www.whonamedit.com) Chondrodysplasia, dyschondroplasia, enchondromatosis enchondromatosis isusually bilateral. The term Ollier syndrome applies in cases with unilateral http://www.whonamedit.com/synd.cfm/1813.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Ollier's disease Synonyms: Chondrodysplasia, dyschondroplasia, enchondromatosis, hemichondrodysplasia, hemichondrodystrophy, internal chondromatosis, multiple enchondromata, multiple enchondromatosis, multiple enchondromata syndrome, osteochondromatosis syndrome. Associated persons: Angelo Maffucci Louis Xavier Édouard Léopold Ollier Description: A disorder of the growing ends of bones in which round nonossified cartilaginous masses scattered throughout the skeleton produce asymmetrical and very variable deformities, asymmetric leg shortening being common. The lesions are first noted from 1 to 4 years of age, rarely at birth, with little progression after adolescence. Both sexes may be affected. The majority of cases have been sporadic but a familial tendency has been reported in a few instances. Enchondromatosis is usually bilateral. The term Ollier syndrome applies in cases with unilateral involvement. The combination of multiple enchondromata with haemangiomata and phleboliths is known as Maffucci syndrome.

64. Clinical Orthopaedics And Related Research - UserLogin enchondromatosis should be considered in the differential diagnosis. Radiographically, fibrous dysplasia and enchondromatosis may appear similar. http://www.corronline.com/pt/re/corr/fulltext.00003086-200312000-00036.htm

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65. Clinical Orthopaedics And Related Research - UserLogin Multiple enchondromatosis, or Ollier s disease, is a nonhereditary bone Cartilage lobuli, present in the enchondromatosis, are not seen in this area. http://www.corronline.com/pt/re/corr/fulltext.00003086-200101000-00013.htm

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66. Journal Of Pediatric Orthopaedics - UserLogin Two patients had an arm and forearm affected by enchondromatosis. A mutantPTH/PTHrP type I receptor in enchondromatosis. Nat Genet. 2002;30306310. http://www.pedorthopaedics.com/pt/re/jpedortho/fulltext.00004694-200503000-00015

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67. Journal Of Pediatric Orthopaedics - Abstract: Volume 24(1) January/February 2004 (Multiple Hereditary Osteochondromatosis and Ollier s enchondromatosis). enchondromatosis OE) are common pediatric orthopaedic conditions. http://www.pedorthopaedics.com/pt/re/jpedortho/abstract.00004694-200401000-00020

LWWOnline LOGIN eALERTS REGISTER ... Archive Determination of Bone Age in Children... ARTICLE LINKS: Fulltext PDF (344 K) Permissions Determination of Bone Age in Children With Cartilaginous Dysplasia (Multiple Hereditary Osteochondromatosis and Ollier's Enchondromatosis). Journal of Pediatric Orthopedics. 24(1):102-108, January/February 2004. Loder, Randall T. MD *; Sundberg, Stephen MD +; Gabriel, Keith MD ++; Mehbod, Amir MD [S]; Meyer, Christopher MD [P] Abstract: < 10-6). Intra- and interobserver variability was +/-1.5 and +/-1.6 years. There were no differences between observers in the average chronological/bone age difference (P = 0.63). Clinicians should be aware of this average 0.6-year delay in bone age when planning an epiphysiodesis for limb length equalization in children with cartilaginous dysplasias. Subscribe to RSS feed utrdc-pt02 Release 4.0

68. Pathological Society Of Great Britain And Ireland No difference was found between samples from enchondromatosis patients and solitarycases, suggesting no difference in PTHrP signalling. http://www.pathsoc.org.uk/pathCda/cda/microJournalPastIssue.do?DOI=10.1002/path.

69. UniProtKB/Swiss-Prot Entry Q03431 [PTHR1_HUMAN] Parathyroid Hormone/parathyroid A mutant PTH/PTHrP type I receptor in enchondromatosis. ; enchondromatosis (Ollierdisease, Maffucci syndrome) is not caused by the PTHR1 mutation http://www.expasy.org/uniprot/Q03431

ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) UniProtKB/Swiss-Prot entry Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers None Entered in Swiss-Prot in Release 27, October 1993 Sequence was last modified in Release 27, October 1993 Annotations were last modified in Release 47, May 2005 Name and origin of the protein Protein name Parathyroid hormone/parathyroid hormone-related peptide receptor [Precursor] Synonyms PTH/PTHr receptor PTH/PTHrP type I receptor Gene name Name: Synonyms: PTHR From Homo sapiens (Human) TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE. TISSUE Kidney DOI= 10.1210/en.132.5.2157

70. Enchondromatosis (Ollier AndMaffucci) Clinical Nuclear Medicine Fulltext Volume 29(7) July 2004 p 456 The malignant potential of enchondromatosis. J Bone Joint Surg Am. 1987;69269-274 . Symmetrical enchondromatosis of the hands and feet in two sisters. http://www.gentili.net/diaglist.asp?Id=.1543&Diag=Enchondromatosis (Ollier andMa

71. Geneticalliance.org Multiple enchondromatosis Also known as Ollier disease Support Groups.2 organization(s) found. previous Page 1 of 1 next http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

72. Case Of The Month - January, 2003 in some cases enchondromatosis will affect patients in the metaphyseal and A recently described variant Epiphyseal Metaphyseal enchondromatosis. http://cases.pedrad.org/case.php?month=January&year=2003

73. Ollier Disease Ollier s disease (multiple enchondromatosis) Ollier s disease (multipleenchondromatosis) Objectives 1. Describe the radiographic features of solitary http://www.health-nexus.com/ollier_disease.htm

The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Ollier Disease Ollier disease a CHORUS notecard document about Ollier disease ... Ollier disease. multiple enchondromata. hamartomas of cartilage within bone ... Ollier Disease and Maffucci Syndrome Ollier Disease and Maffucci Syndrome Frank ... MD Introduction Maffucci Syndrome Ollier Disease Introduction Other benign cartilage ... small round calcifications phleboliths). Ollier Disease To make the ... Ollier Disease ...CATEGORIES Home Up Ollier Disease Opitz Syndrome Ollier Disease Ollier/Maffucci Self Help Group - http://www.ollier-maffucci.org... Ollier disease ...Multiple hereditary exostoses ] [ Ollier disease ] [ Achondroplasia ] [ Diastrophic...a group of disorders of which Ollier disease is the best known. This is nonhereditary...in the hands and feet.... WebMD - Ollier Disease Ollier Disease ... Ollier Disease ... The Contact a Family Directory - OLLIER'S DISEASE printer friendly, OLLIER'S DISEASE, ... Hospital, London, UK. OLLIER'S DISEASE SELF-HELP GROUP. Andrew Harter Ollier's Disease Self-Help Group ...

74. Ovarian Juvenile Granulosa Cell Tumor Associated With Maffucci’s JGCTs are rare and those associated with enchondromatosis are much rarer. Both JGCT and enchondromatosis are unusual diseases and usually occur in http://www.cmj.org/information/full.asp?id=1794

75. Hand Case Of The Week #10-99 Aug 8 1999 to as multiple congenital enchondromatosis or hemangiomatosis osteolytica . neuroectodermal dyschondroplasia, (enchondromatosis) and multiple soft http://www.eatonhand.com/handbase/cwf101999.htm

Hand Case of the Week #10-99 Aug 8 1999 Cases of the Week Mailbase Case of the Week pages are archived to provide image embedded pages at http://www.eatonhand.com/handbase/images.htm Share your most valuable asset - your knowledge and experience! Submit your case of the week to mailto:eaton@eatonhand.com Not on the Orthogate Hand mailing list? Click here to subscribe... Today's case was submitted by Shmuel Luboshitz MD Sheba Medical Center, Israel Thanks! The Case History The patient is a 23 year old woman whose right upper extremity is affected by a ...syndrome. She has restricted finger motion. Lately the 4th (ring) digit tip is very painful. The tip of the 4th finger is prominent, red, very sensitive to touch, hypotrophic nail, consistency very soft. What to do? Radiographs And again, the ring fingertip: You might like to run a search. Click on the links below to search for: Maffucci's Syndrome Ollier's disease Chondrosarcoma in the hand Discussion The patient has Maffucci's syndrome, also referred to as multiple congenital enchondromatosis or hemangiomatosis osteolytica. Maffucci's syndrome is a congenital nonfamilial syndrome combining neuro-ectodermal dyschondroplasia, (enchondromatosis) and multiple soft tissue hemangiomas (hemangiomatosis). It is a rare disease; only 200 cases have been reported throughout the world in the past 140 years. These tumors typically present in early childhood with pain and heaviness of the involved extremity and may lead to significant skeletal deformities. It is associated with chondrosarcoma and vascular origin sacomas, intracranial tumors, and with vascular nasopharyngeal and airway tumors which may lead to intubation related bleeding. Malignant transformations are a common feature of this syndrome and have been reported in approximately 30% of reported cases, with chondrosarcomas being the most common.

76. Blackwell Synergy - Cookie Absent She had been diagnosed as having enchondromatosis (Ollier s disease) as a child . enchondromatosis (Ollier s disease) is a nonhereditary disorder of http://www.blackwell-synergy.com/doi/abs/10.1111/j.1471-0528.2004.00443.x

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77. Ollier Disease enchondromatosis, or multiple enchondromas, refers to a group of disorders of Mafucci syndrome represents enchondromatosis with oft tissue hemangiomas, http://www.stevensorenson.com/residents6/ollier_disease.htm

Home Up Neurofibromatosis Pyknodysostosis ... Multiple hereditary exostoses [ Ollier disease ] Achondroplasia Diastrophic dwarfism Chondrodysplasia punctata Thanatophoric dwarfism ... Dyschondrosteoses Enchondromatosis, or multiple enchondromas, refers to a group of disorders of which Ollier disease is the best known. This is nonhereditary disorder which usually presents in childhood. Nominally, the disease consists of multiple enchondromas. However, on radiographs, streaks of low density are seen projecting through the diaphyses into the epiphyses of the long bones, due to ectopic cartilage deposits. With age, the cartilage may calcify in the typical "snowflake" pattern. The affected extremity is shortened (asymmetric dwarfism) and sometimes bowed due to epiphyseal fusion anomalies. Patients are at risk for development of sarcomas, specifically osteosarcomas and chondrosarcomas. These occur in approximately 25 % of patients. Mafucci syndrome represents enchondromatosis with oft tissue hemangiomas, usually in the hands and feet. As with Ollier disease, there is typically a shortening of the long bones. These patients are at higher risk for sarcomatous transformation of both the vascular and cartilaginous portions of the disease. REFERENCES Flemming DJ, Murphey MD. Enchondroma and chondrosarcoma. Semin Musculoskelet Radiol. 2000;4(1):59-71.

78. Reflections-Alman And Kaplan Our research found that this cycle in broken in enchondromatosis, as there is amutation in the receptor, that still allow the slowing of bone growth, 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.

79. GPCRDB: Swiss-Prot Entry Alman BA; RT A mutant PTH/PTHrP type I receptor in enchondromatosis. or as multiple lesions in CC enchondromatosis (Ollier and Maffucci diseases). http://www.gpcr.org/7tm/seq/all/PTHR1_HUMAN.SW.html

GPCRDB: Swiss-Prot entry ID PTHR1_HUMAN STANDARD; PRT; 593 AA. AC Q03431; DT 01-OCT-1993 (Rel. 27, Created) DT 01-OCT-1993 (Rel. 27, Last sequence update) DT 01-MAY-2005 (Rel. 47, Last annotation update) DE Parathyroid hormone/parathyroid hormone-related peptide receptor DE precursor (PTH/PTHr receptor) (PTH/PTHrP type I receptor). GN Name=PTHR1; Synonyms=PTHR; OS Homo sapiens (Human) . OC Eukaryota Metazoa Chordata Craniata ... Euteleostomi ; OC Mammalia Eutheria Primates Catarrhini ... Homo . OX NCBI_TaxID= ; RN [1] RP NUCLEOTIDE SEQUENCE. RC TISSUE=Kidney; RX MEDLINE=93238641; PubMed=8386612 [ NCBI ExPASy EBI Israel ... Japan ]; DOI= 10.1210/en.132.5.2157 ; RA Schipani E. Karga H. Karaplis A.C. Potts J.T. Jr. ... Kronenberg H.M. , RA Abou-Samra A.-B. Segre G.V. Jueppner H. ; RT "Identical complementary deoxyribonucleic acids encode a human renal RT and bone parathyroid hormone (PTH)/PTH-related peptide receptor."; RL Endocrinology 132:2157-2165(1993). RN [2] RP NUCLEOTIDE SEQUENCE. RC TISSUE=Kidney; RX MEDLINE=93387403; PubMed=8397094 [ NCBI ExPASy EBI Israel ... Japan ]; DOI=10.1016/0922-4106(93)90092-N; RA

80. Tumors ChondromaID5147 The nonerheditary syndrome of multiple enchondromas or enchondromatosis is known as enchondromatosis associated with soft tissue hemangiomas is known as http://www.infobiogen.fr/services/chromcancer/Tumors/ChondromaID5147.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Bone: Chondroma Identity Note Chondroma is an uncommon benign tumour which characteristically forms mature cartilage. It is found mostly in the small bones of the hand and/or feet, although it can also occur in long, tubular bones, primarily the humerus, femur and ribs. Occasionally, focal areas of mixoid degeneration may result in a mistaken diagnosis of chondrosarcoma. Classification Chondromas are classified according to their location: enchondroma: within the bone (within the medullary cavity), periosteal chondroma: on the surface of the bone, soft tissue chondroma in the soft tissue. Clinics and Pathology Disease Enchondroma Note Fig: Enchondroma in the distal portion of the femur shaft. (courtesy of Dr Henry DeGroot at http://www.drdegroot.com Enchondroma is usually a solitary benign lesion in intramedullary bone. Usually asymptomatic, it is incidentally discovered as a palpable bony nodule. Rarely, causes soft tissue swelling and pain at the lesion site. Pain can be a sign of pathologic fracture. Both sex are equally affected, and any age group can be involved. It is thought to develop from epiphyseal cartilage rests that subsequently proliferate and slowly enlarge. Approximately 50% of solitary enchondromas are found in the hands, typically in the middle and distal portions of the metacarpals and the proximal portions of the phalanges, 10% in the feet, 20% in the proximal and distal parts of the femur and the proximal part of the humerus.

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