41. Osteogenesis Imperfecta osteogenesis imperfecta. This baby's extremities are positioned oddly becausethere have been multiple fractures due to osteogenesis imperfecta (OI). http://medgen.genetics.utah.edu/photographs/pages/osteogenesis_imperfecta.htm

osteogenesis imperfecta This baby's extremities are positioned oddly because there have been multiple fractures due to osteogenesis imperfecta (OI). This disease leads to multiple fractures. The basic problem is a defect in the formation of type 1 collagen that forms bone matrix. There are several types of OI with different inheritance patterns. This is a lethal form of osteogenesis imperfecta (OI) in which the fractures even appear in utero, as revealed by this radiograph of a stillborn fetus. Note the irregular motheaten appearance of the long bones of the arm. Examinations Photographs Movies Links ... noJava Home

42. CBBF Osteogenesis Imperfecta CBBF osteogenesis imperfecta CBBF / Childrens Brittle Bone FoundationORGP / Office of Research Grants and Projects. FELLOWSHIPS http://www.weizmann.ac.il/orgp_open/postdoc/CBBF-Osteogenesis-Imperfecta-Childre

CBBF Osteogenesis Imperfecta CBBF / Childrens Brittle Bone Foundation ORGP / Office of Research Grants and Projects FELLOWSHIPS The ORGP has received guidelines regarding this potential source for postdoctoral funding. The guidelines have been forwarded to the Feinberg graduate school. HOMEPAGE ON THE INTERNET: Access the CBBF Webpage Guidelines and Forms are found on the CBBF Website SCIENTIFIC AREAS: The CBBF invites grant applications for fellowships to study the pathogenesis and treatment of osteogenesis imperfecta (OI). Appropriate research areas include therapeutic approaches to OI, regulation of collagen synthesis, and bone growth and development. Preference will be given to applications focused on OI. SUBMISSION DATE(S): 16 October OTHER TYPES of AWARDS OFFERED by the CBBF: Research Grants FOR FURTHER INFORMATION PLEASE CONTACT THE ORGP (Tel. 3995 ) KEYWORDS: Life Sciences LAST UPDATED: 18 July 2002

43. The DRM WebWatcher: Osteogenesis Imperfecta Often called brittle bone disease, osteogenesis imperfecta (OI) is a geneticdisorder characterized by bones that break easily, often for little or no http://www.disabilityresources.org/OI.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher (Subjects) Osteogenesis Imperfecta Updated 6/2000 A B C D ... About/Hint/Link Often called "brittle bone disease," Osteogenesis Imperfecta (OI) is a genetic disorder characterized by bones that break easily, often for little or no apparent cause. Here are some good resources. Osteogenesis Imperfecta A brief summary and resource list from the National Organization for Rare Disorders. Osteogenesis Imperfecta From The National Institutes of Health Osteoporosis and Related Bone Diseases National Resource Center, this site includes general information about OI and an excellent series of fact sheets that address the concerns of parents. Osteogenesis Imperfecta A fact sheet from the American Academy of Orthopaedic Surgeons. Osteogenesis Imperfecta; Information on the Internet Compiled by the parent of a child with OI, this comprehensive and well-organized homepage offers links to organizations, resources, listserves and newsgroups, people, research, equipment, child abuse issues, and more. Osteogenesis Imperfecta Federation Europe (OIFE) This federation of European OI societies offers access to web sites, listservs, and other OI resources in various languages.

44. PAGINA SOBRE OSTEOGENESIS IMPERFECTA DE IGNACIO IGLESIAS Translate this page BIENVENIDOS,SOY IGNACIO IGLESIAS. QUIERO CONTARLES SOBRE LA osteogenesis imperfecta.(hazclick aqui si quieres saber que es). Que es osteogenesis imperfecta? http://orbita.starmedia.com/~alejandraldei/

var logDomain = "starmedia"; var logChannel = "paginaspersonales"; var logPath = "otros"; BIENVENIDOS,SOY IGNACIO IGLESIAS QUIERO CONTARLES SOBRE LA OSTEOGENESIS IMPERFECTA. (haz click aqui si quieres saber que es) DERECHOS DE UN NIÑO OSTEOGENESIS IMPERFECTA, LOS NIÑOS DE CRISTAL En esta pagina encontraran las principales caracteristicas fisicas de las personas que padecen OI, asi como tambien una descripcion de sus tipos y sus causas geneticas, algunos links a otras paginas y una cronologia fotografica de las fracturas de Ignacio a traves de estos tres años, su historia y varias cosas mas... Objetivo de esta pagina: El principal objetivo de esta pagina es concientizar a los profesionales que intervienen en el diagnostico de los casos de violencia intrafamiliar a los efectos de que sean capaces de distinguir los casos de O. I. y de este modo no se de lugar a situaciones de violencia institucional, ya que la acusacion de maltratadores, o las implicancias juridicas de esta, ocasionan en definitiva trastornos familiares muchas veces mas irreparables que la misma OI. QUE PASA CUANDO LOS MEDICOS CONFUNDEN ENFERMEDAD CON VIOLENCIA DOMESTICA? AQUI ENCONTRARAN EL RELATO DE LO QUE SUCEDIO A MI FAMILIA Y A MI ANTE UNA FALSA DENUNCIA DE MALTRATO.

45. Osteogenesis Imperfecta osteogenesis imperfecta up. http://omni.ac.uk/browse/mesh/detail/C0029434L0029434.html

Osteogenesis Imperfecta [up] Related topics: broader Collagen Diseases Genetic Diseases, Inborn other Ataxia Telangiectasia Cystic Fibrosis Ehlers-Danlos Syndrome Marfan Syndrome ... Brittle Bone Society The Brittle Bone Society (BBS) is a UK registered charity that was founded in 1971. Its aims are to promote research into the brittle bones diseases (osteogenesis imperfecta) and to provide practical support, advice and encouragement to sufferers and their relatives. The Web site contains information about the Society, its members and services. There is also a series of factsheets on the subject. Charities Great Britain Osteogenesis Imperfecta Last modified 28/Mar/2003 [Low Graphics]

46. Osteogenesis Imperfecta osteogenesis imperfecta comprises a group of conditions which result in severaldifferent types of limb shortening (often micromelic) and dwarfism. http://www.stevensorenson.com/residents6/osteogenesis_imperfecta.htm

Home Up Neurofibromatosis Pyknodysostosis ... Asphyxiating thoracic dysplasia [ Osteogenesis imperfecta ] Dyschondrosteoses Osteogenesis imperfecta comprises a group of conditions which result in several different types of limb shortening (often micromelic) and dwarfism. The underlying cause is a defect in type I collagen synthesis resulting in skeletal, ligament, skin, sclera, and dentin abnormalities. Either too little normal collagen or variable quantities of abnormal collagen are produced. The majority of cases are autosomal dominant in transmission, with approximately 25 % due to spontaneous mutations. The incidence is between 1 and 20,000 to 60,000 births. Four types of osteogenesis imperfecta exist: Type I ("Tarda") Most common and mildest form, autosomal dominant Mildly fragile bones which may fracture at delivery May have short stature Loose joints Blue sclerae Brittle teeth Hearing loss, beginning in the second decade of life Normal collagen structure, but produced in abnormally low amounts Type II ("Congenita")

47. St. Jude Children's Research Hospital osteogenesis imperfecta. Definition Known stature. Incidence Osteogenesisimperfecta occurs in one in every 20,000 people. Severe http://www.stjude.org/medical/osteogenesis.htm

About Us Search Career Opportunities News Donate Now Contact Us Research ... Phase I Studies Home St. Jude's "bench to bedside" approach to finding cures for the catastrophic diseases of childhood allows St. Jude patients more efficient access to the latest research findings available. Our protocols are freely shared with physicians and healthcare institutions throughout the world. W e are actively recruiting for specific clinical studies. Patients must be referred by their physician Click here to refer a patient to St. Jude or for referral, consultation and treatment policies. Parents who want to know if their child is eligible to be treated at St. Jude should have the child’s physician call the toll free number below. Note: There may not be treatment protocols in place for all of the conditions in the lists to the left, or for all stages or treatment phases of every disease listed. For information about whether a specific disease is currently being treated in a clinical trial at St. Jude, about malignancies not listed, or about other catastrophic diseases in the categories listed here or t o determine if a child is eligible for treatment at St Jude

48. Osteogenesis Imperfecta Beginpagina — Ziekten en aandoeningen — osteogenesis imperfecta(OI) osteogenesis imperfecta (OI) Korte beschrijving Osteogenesis http://www.erfocentrum.nl/zena/osteo.php

erfelijkheid.nl winkel mail ons nieuwsbrief ... sitemap ZIEKTEN EN AANDOENINGEN ERFELIJKHEID LITERATUUR (PARA)MEDICI Beginpagina ... Ziekten en aandoeningen Osteogenesis imperfecta (OI) Osteogenesis imperfecta (OI) Korte beschrijving Osteogenesis imperfecta (OI) is een zeldzame aangeboren aandoening van het steungevende weefsel. Daartoe behoren ondermeer botten, tandbeen, gewrichtskapsels en het steunweefsel van de huid. Door de afwijkende bouw zijn deze weefsels minder stevig: botten kunnen bijvoorbeeld makkelijk breken of kromgroeien. Ook kunnen andere verschijnselen voorkomen zoals blauw oogwit, doofheid, achterblijven in groei, abnormaal beweeglijke gewrichten en afwijkingen aan het gebit. Diagnose Naast het hebben van bovengenoemde verschijnselen, wordt de diagnose met genetisch en klinisch radiologisch onderzoek bevestigd. Behandeling Een methode om OI echt te genezen is er nog niet. Wel kunnen voor patiënt en familie de gevolgen van de aandoening zoveel mogelijk worden beperkt door een goede medische, psychologische en maatschappelijke begeleiding. Overerving Autosomaal dominant (wat is dat?)

49. Osteogenesis Imperfecta Disease osteogenesis imperfecta. Purpose To establish the efficacy andsafety of oral bisphosphonates in adults with osteogenesis imperfecta. http://medicine.iupui.edu/ctp/trials/osteoimperf.htm

Disease: Osteogenesis Imperfecta Purpose: To establish the efficacy and safety of oral bisphosphonates in adults with osteogenesis imperfecta. Comparison will be made between bisphosphonate dose taken daily and one taken weekly. Investigator: Linda DiMeglio, M.D. To qualify you must: Have osteogenesis imperfecta and be at least 18 years of age. Length/Duration: Visits every 6 months for 2 years Location: University Hospital General Clinical Research Center 5th floor Benefits: This medication may result in stronger bones, pain reduction, improved mobility and reduced fracture rates. May help develop new therapy for others with osteogenesis imperfecta. Therapy, however, is experimental and one cannot be certain of benefits. Compensation: There is no direct monetary compensation. All laboratory results, bone density measurements, dental visits, audiology test, dietary assessment, and physician visits are done at no charge. Whom to contact: Name: LeeAnn Ford, RN

50. NIAMS Funds Multiple Research Grants In Osteogenesis Imperfecta NIAMS Funds Multiple Research Grants in osteogenesis imperfecta. Researchon osteogenesis imperfecta (OI), a genetic disorder characterized http://www.niams.nih.gov/ne/press/2000/11_14.htm

Highlights Osteoarthritis Initiative Press Releases Upcoming Meetings ... Reports Search NIAMS Press Releases By Year NATIONAL INSTITUTES OF HEALTH National Institute of Arthritis and Musculoskeletal and Skin Diseases FOR IMMEDIATE RELEASE Tuesday, November 14, 2000 Contact: Kelli Carrington Office of Communications and Public Liaison carringk@mail.nih.gov NIAMS Funds Multiple Research Grants in Osteogenesis Imperfecta Research on osteogenesis imperfecta (OI), a genetic disorder characterized by bones that break easily, has received a boost from the award of five new grants by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the National Institutes of Health. The grants, which total $1.6 million, support research activities ranging from cutting-edge gene and cell therapies to testing drug treatments in mouse models. "These projects seize new research opportunities for rare genetic disorders like osteogenesis imperfecta," said NIAMS Director Stephen I. Katz, M.D., Ph.D. "We are excited about their potential for improved diagnosis and treatment, and encouraged by the hope they bring to people with osteogenesis imperfecta and their families."

51. Medic-Planet Osteogenesis Imperfecta osteogenesis imperfecta See also Bones, Genetic diseases, Back tothe Index page osteogenesis imperfecta osteogenesis imperfecta http://www.medic-planet.com/MP_article/internal_reference/Osteogenesis_imperfect

52. Osteogenesis Imperfecta - ICQ Interest Groups - ICQ.com Back to Homepage Groups Health Support Diseases Disorders OsteogenesisImperfecta ICQ Interest Groups osteogenesis imperfecta, http://web.icq.com/groups/browse_folder?tid=1887

53. Osteogenesis Imperfecta - Message Boards - ICQ.com Back to ICQ Homepage Message Boards Health Support Diseases Disorders osteogenesis imperfecta Health Support Message Boards Osteogenesis http://web.icq.com/boards/browse_folder?tid=1887

54. EMedicine - Osteogenesis Imperfecta : Article By Mandar A Pattekar, MD, MS osteogenesis imperfecta osteogenesis imperfecta (OI) is a condition resultingfrom abnormality in the type I collagen, which most commonly manifests as http://www.emedicine.com/PED/topic1674.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Osteogenesis Imperfecta Last Updated: February 25, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: OI, fragile bone disease, brittle bones,, broken bones,, bone fragility AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Mandar A Pattekar, MD, MS , Staff Physician, Department of Radiology, William Beaumont Hospital Coauthor(s): Alexander Cacciarelli, MD, FACR , Director, Department of Radiology, Division of Pediatric Radiology, William Beaumont Hospital Mandar A Pattekar, MD, MS, is a member of the following medical societies: American College of Radiology American Roentgen Ray Society , and Radiological Society of North America Editor(s): Erawati Bawle, MD, FAAP, FACMG , Director, Division of Genetic and Metabolic Diseases, Children's Hospital of Michigan; Clinical Professor, Department of Pediatrics, Wayne State University School of Medicine; Robert Konop, PharmD

55. Roche Lexikon Medizin (4. Aufl.) - Osteogenesis Imperfecta osteogenesis imperfecta. Einteilungder osteogenesis imperfecta (modif. nach SILLENCE) 308 http://www.gesundheit.de/roche/ro27500/r28303.html

Osteogenesis imperfecta Osteopsathyrosis engl.: osteogenesis imperfecta O. i. congenita Typ Vrolik*, O. i. letalis, O. i. Typ II O. i. tarda, O. i. Typ I, Typ III, Typ IV L OBSTEIN * Krankheit O. i. Typ I O. i. Typ III O. i. Typ IV Einteilung der Osteogenesis imperfecta (modif. nach S ILLENCE Typ I blaue Skleren diskreter Minderwuchs Typ II = perinatale letale Form enger Thorax weicher Kopf, minimal verkalkt schiefergraublaue Skleren Hernien Typ III = progressiv deformierende Form extremer Kleinwuchs Dentinogenesis imperfecta Typ IV Kleinwuchs Dentinogenesis imperfecta Verwandte Themen Blegvad*-Haxthausen* Syndrom Dysplasia, Dysplasie Fragilitas van der Hoeve* Syndrom ... Vrolik* Krankheit

56. Zoi Zelfhulp osteogenesis imperfecta vzw. email zoi@pi.be meer info klik HIEROP. http://home.pi.be/zoi/

57. Osteogenesis Imperfecta Translate this page osteogenesis imperfecta. Voir également Capdepont, os, cal osseux,collagène, tissu conjonctif, lathyrisme. Synonymes Lobstein http://www.vulgaris-medical.com/texto/osteoimp.html

Osteogenesis imperfecta Voir également Capdepont, os, cal osseux, collagène, tissu conjonctif, lathyrisme. Synonymes : Lobstein (maladie de), triade de van der Hoeve et de Kleyn, maladie des hommes de verre, maladie d'Eddowses, maladie d'Adair Dayton, maladie de Spurway, syndrome des sclérotiques bleues, fragilité osseuse héréditaire. Pathologie se caractérisant par des os d'une fragilité extrême qui se brisent au moindre choc. Sillence (chercheur qui a travaillé sur cette pathologie) distingue plusieurs formes : Le type I correspond à la forme modérée, de transmission dominante (il suffit qu’un seul des 2 parents soit porteur du gène défaillant pour que l’enfant ait la maladie) dans laquelle on note une coloration bleue des sclérotiques (blanc de l’œil) Le type II correspond à la forme létale (entraînant le décès du patient). Cette forme est de transmission récessive autosomique (il est nécessaire que les deux parents portent l'anomalie génétique sur un chromosome sexuel (X. Y.) pour que l'enfant ait la maladie). Le type III correspond à la forme sévère, dont la transmission se fait suivant le mode récessif autosomique (voir ci-dessus)

58. Uhrad.com - Pediatric Imaging Teaching Files uhrad.com Pediatric Imaging Teaching Files. Case Sixteen - OsteogenesisImperfecta. Diagnosisosteogenesis imperfecta. Discussion http://www.uhrad.com/pedsarc/peds016.htm

uhrad.com - Pediatric Imaging Teaching Files Case Sixteen - Osteogenesis Imperfecta Findings: A. Initial radiograph from this three-week-old child demonstrates the findings of diffuse osteoporosis, and healing oblique fractures of the femoral diaphyses. Bowing deformities of the markedly foreshortened femora, tibiae, and fibulae can be observed. B. Subsequent examination obtained seven months later describes advanced healing of the previously demonstrated femoral fractures. Gradually increasing lower extremity weight bearing by the patient has resulted in progressive bowing deformity of the osteoporotic long bones. C. Examination of the right lower extremity obtained six days after "B" demonstrates a new oblique fracture of the right femoral diaphysis. Diagnosis: Osteogenesis Imperfecta Discussion: OSTEOGENESIS IMPERFECTA is a relatively common heterogeneous disorder characterized and sub-classified by age of onset and clinical course, and by the presence/absence of: 1)dentinogenesis imperfecta; 2) blue sclerae; and 3) hearing impairment. Sub-classifications (Types I-IV) are also defined, in part, by inheritance pattern and salient radiographic features. The principal biochemical defects related to osteogenesis imperfecta (OI) result in the impairment of early stages in the synthesis of connective tissue fibers, as well as faulty cross- linking of the resultant fibers into adult Type I collagen.

59. Osteogenesis Imperfecta - Lucile Packard Children's Hospital Orthopaedics. osteogenesis imperfecta What is osteogenesis imperfecta?Osteogenesis What causes osteogenesis imperfecta (OI)? The http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/orthopaedics/oi.html

Motion and Gait Analysis Laboratory Orthopedic Clinic Orthopaedic Surgeons Orthopaedics Orthopaedics Osteogenesis Imperfecta What is osteogenesis imperfecta? Osteogenesis imperfecta (OI), also known as brittle-bone disease, is a genetic (inherited) disorder characterized by bones that break easily without a specific cause. An estimated 20,000 to 50,000 people in the US have this disease. What causes osteogenesis imperfecta (OI)? The cause of osteogenesis imperfecta (OI) is believed to be due to a genetic defect that causes imperfectly-formed, or an inadequate amount of, bone collagen - a protein found in the connective tissue. The disorder occurs in one out of 20,000 to one out of 60,000 live births. OI can affect males and females of all races. What are the symptoms of osteogenesis imperfecta (OI)? The following are the most common symptoms for osteogenesis imperfecta (OI). However, each child may experience symptoms differently. Although symptoms may vary, generally they are used to classify the four forms of OI, each of which represents varying grades of severity of the condition. According to the Osteoporosis and Related Bone Diseases National Resource Center, part of the National Institutes of Health (NIH), the types of OI and their symptoms include:

60. Osteogenesis Imperfecta osteogenesis imperfecta,, Print this article, osteogenesis imperfecta,Table 1. Classification of osteogenesis imperfecta. Type I, http://www.amershamhealth.com/medcyclopaedia/Volume III 1/osteogenesis imperfect

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Osteogenesis imperfecta, an inherited disorder of connective tissue in which various structures are affected (skeleton, ligaments, skin, sclerae and denting), expressed either as an abnormal synthesis (quantity) or abnormal structure (quality) of procollagen I. Osteogenesis imperfecta has four major clinical criteria, the presence of two of which are required to make the diagnosis: osteoporosis with abnormal fragility of the skeleton; blue sclera; dentinogenesis imperfecta ; and premature otosclerosis. Among the other manifestations of osteogenesis imperfecta are ligamentous laxity, easy bruisability, constipation, hyperplastic scars and premature vascular calcifications. Although classically two forms have been recognized (the congenita form, which has a high infant mortality rate, and the tarda form, in which life expectancy is normal), a newer classification system based on a combination of clinical, radiographic and genetic factors has largely replaced these terms (Table 1). Osteogenesis imperfecta, Table 1. Classification of osteogenesis imperfecta.

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