21. Osteogenesis Imperfecta - About Osteogenesis Imperfecta Next . osteogenesis imperfecta. Edited by Frederick A. Matsen, III, MD Lastupdated September 5, 2001 About osteogenesis imperfecta. What is it? http://www.orthop.washington.edu/arthritis/types/osteogenesis

Home About Us Clinics Physicians ... Contact Us Table of contents About Osteogenesis Imperfecta What is it? Curability Prognosis ... View article with questions External links Osteogenesis Imperfecta Foundation American Juvenile Arthritis Organization National Organization for Rare Disorders March of Dimes ... [Top] Osteogenesis Imperfecta Edited by Frederick A. Matsen, III, M.D. Last updated September 5, 2001 About Osteogenesis Imperfecta What is it? Osteogenesis Imperfecta (OI) is a group of inherited disorders in which the most common feature is bones that break easily. OI results from an alteration either in the chemical makeup or production of collagen. Collagen is the protein "glue" that holds the body's tissues together and gives strength to bones. It is the major protein in bone. There are several types of collagen, and one of the most important is type I collagen. Curability While there is no cure for OI, early diagnosis and treatment can help ease symptoms and prevent complications. The main purpose of this page is to provide background information about the diagnosis and treatment of OI. Another purpose is to increase public awareness about this condition. Increased awareness not only can help promote a better understanding of OI, but also can reduce the risk of misdiagnosis resulting in mistaken accusations of child abuse. Prognosis Most people with OI have a normal life expectancy and lead very productive lives. Most often they can attend regular schools, enjoy a wide range of career and lifestyle choices, experience fulfilling relationships, and have children.

22. The Family Village / Osteogenesis Imperfecta Library O P. osteogenesis imperfecta. OI_ADULTS For people who areat least 18 and have osteogenesis imperfecta. Learn More About It. http://www.familyvillage.wisc.edu/lib_oste.htm

Osteogenesis Imperfecta Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Osteogenesis Imperfecta" Who to Contact Osteogenesis Imperfecta Foundation (OIF) 804 W. Diamond Avenue, NW, Suite 210 Gaithersburg, MD 20878 (301) 947-0456 - fax E-mail: bonelink@oif.org Web: http://www.oif.org/ The Osteogenesis Imperfecta Foundation is dedicated to helping people cope with the problems associated with OI, by improving the quality of life through education, awareness, mutual support and research into the treatment and potential cure of the disorder. They have local chapters and provide assistance to persons wishing to start a support group in their locality. Additionally, the Foundation provides parent-to-parent matching. The Foundation publishes a quarterly newsletter, Breakthrough , at a cost of $8.00 a year, and brochures including, " The Education of a Child with Osteogenesis Imperfecta," in English and Spanish, "The Care of a Baby and Child with Osteogenesis Imperfecta,""OIF General Information," and "I Have OI and Can....".

23. Osteogenesis Imperfecta osteogenesis imperfecta. Ariane Staub Neish, MD Carl S Winalski, MD. July25, 1995. Presentation. Diagnosis. osteogenesis imperfecta (OI). Discussion. http://brighamrad.harvard.edu/Cases/bwh/hcache/76/full.html

Osteogenesis Imperfecta Ariane Staub Neish, MD Carl S Winalski, MD July 25, 1995 Presentation 32-week stillborn male fetus Imaging Findings Anteroposterior radiograph Lateral radiograph Plain radiographs (anteroposterior and lateral views) of the fetus indicate the following: Skull: Minimal mineralization at the skull base only. Long Bones: General demineralization; short, telescoped long bones secondary to in utero fractures. The provisional zones of calcification are preserved (ends of long bones are sharp). Ribs: Beaded appearance secondary to multiple fractures. Diagnosis Osteogenesis imperfecta (OI) Discussion This combination of findings is diagnostic of osteogenesis imperfecta (OI) type II. OI is an inherited disorder of collagen maturation which results in abnormal skeletal, ligament, skin, sclera, and dentin formation. The four major clinical criteria are osteoporosis blue sclerae dentingenesis imperfecta premature otosclerosis Two of these clinical criteria are needed for the diagnosis. Classification of Osteogenesis Imperfecta: (1) Type Mode of Inheritance Description I Dominant Mild fragility without deformity, short stature

24. Brittle Bone Society - The UK Charity For Osteogenesis Imperfecta The Society gives support to anyone affected by osteogenesis imperfecta,a rare genetic condition which leads to severe and painful fractures. http://www.brittlebone.org/

Welcome to the Brittle Bone Society website. We offer help, advice and information to people affected by Osteogenesis Imperfecta. Flash Site Graphical Site Text Site

25. Osteogenesis Imperfecta - Brittle Bone Society osteogenesis imperfecta (OI) is the medical name for brittle bones. `BrittleBones What is osteogenesis imperfecta? osteogenesis imperfecta http://www.brittlebone.org/html/overview.htm

What is Osteogenesis Imperfecta? Osteogenesis Imperfecta (OI) is the medical name for brittle bones. `Brittle Bones' refers to a range of conditions resulting from abnormalities in the protein structure of the bones. This causes the bones to break more easily than normal. What is it like to have brittle bones? Some children with OI are born with fractures, others have their first injury soon after birth, yet others when they try to walk for the first time. This is obviously a difficult time for the family and a large part of the society's work is to provide the guidance, support and information that they need. In a few cases children with brittle bones are, initially thought to have been injured by their parents. This accusation does great damage to the families and the Society can provide advice and support. Does it vary in severity?

26. NetDoktor.dk - Fakta Om Dansk Forening For Osteogenesis Imperfecta Dansk Forening for osteogenesis imperfecta, OI, Adresse FormålDansk Forening for osteogenesis imperfecta Carl Th. Dreyersvej http://www.netdoktor.dk/patientforeninger/fakta/osteogenesisimperfecta.htm

Dansk Forening for Osteogenesis Imperfecta, OI Adresse: Formål: Dansk Forening for Osteogenesis Imperfecta Carl Th. Dreyersvej 220 2500 Valby Tlf: 36 46 66 67 E-mail: dfoi@get2net.dk Gironummer: 412-0744 At udøve rådgivende, oplysende og hjælpsom virksomhed til alle, der har OI samt til disses familier. At sprede viden om OI til hospitaler og andre behandlende institutioner. At arbejde for, at myndighederne skal få kendskab til OI og gruppens specielle problemer. At fremme interessen for forskning. At arbejde for kontakt til tilsvarende foreninger i Danmark og i andre lande. Fakta om foreningen Beskrivelse af foreningen: OI er en landsdækkende forening, der henvender sig til personer, der er ramt af sygdommen Osteogenesis Imperfecta og deres pårørende. Derudover er det muligt at blive støttemedlem af foreningen, hvis man ønsker at støtte formålet. Osteogenesis Imperfecta er en arvelig, medfødt lidelse, der viser sig ved, at patientens knogler, muskler, led, tænder, sener, blodkar, indre organer og hud udvikles mangelfuldt. Grunden hertil er, at et af kroppens vigtigste proteiner, som netop er en vigtig bestanddel af mange af kroppens dele, ikke fungerer rigtigt. Sygdommen viser sig i meget varierende sværhedsgrader; nogle får så lette symptomer at sygdommen aldrig opdages, mens andre invalideres og må tilbringe livet i kørestol.

27. Osteogenesis Imperfecta osteogenesis imperfecta. osteogenesis imperfecta (OI) is a genetic disorder characterizedby bones that break easily, often from little or no apparent cause. http://www.shrinershq.org/patientedu/oi.html

Home Shrine Shriners Hospitals Hospital Directory ... Next Osteogenesis Imperfecta This information was provided by the Spokane Shriners Hospital 911 W. 5th Avenue Spokane, Washington 99210-2472 Telephone (509) 623-0400 Definition Osteogenesis Imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four distinct forms of the disorder, representing extreme variation in severity from one individual to another. For example, a person may have as few as ten or as many as several hundred fractures in a lifetime. Prevalence While the number of persons affected with OI in the United States is unknown, the best estimate suggests a minimum of 20,000 and possibly as many as 50,000. Diagnosis Most forms of OI are caused by imperfectly formed bone collagen, the result of a genetic defect. Collagen is the major protein of the body's connective tissue and can be likened to the framework around which a building is constructed. In OI, a person has either less collagen or a poorer quality of collagen. Clinical features The characteristic features of OI vary greatly from person to person and not all characteristics are evident in each case; however, the general features of OI, which vary in characteristics as well as severity, are:

28. Research Breakthrough For Brittle Bone Disease New hope for children with osteogenesis imperfecta (brittle bone disease). The OsteogenesisImperfecta Foundation has more information about OI. October 1, 1998. http://www.shrinershq.org/research/osteogenesis/oistudy10-98.html

Home Shrine Shriners Hospitals Hospital Directory ... Archives Back to Research page New hope for children with Osteogenesis Imperfecta (brittle bone disease) Montreal Shriners for Hospital for Children promises new hope for children born with a serious, sometimes fatal, bone disease. The results of the study, headed up by Francis H. Glorieux, M.D., Ph.D., were published in this week's issue of the New England Journal of Medicine Osteogenesis Imperfecta, or brittle bone disease, affects about one in nearly 20,000 children born each year. This crippling disorder, similar to osteoporosis, causes frequent bone fractures, progressive deformities of the arms and legs, and chronic bone pain. Children born with OI are often confined to wheelchairs and sometimes don't survive childhood. Up until now, various treatments aimed at increasing bone mass and reducing fractures had been tried in children suffering from the disease but without significant success. The study involved the periodic administration of a drug called pamidronate intravenously to 30 children with severe osteogenesis imperfecta for a period of one to four years. It was was initially targeted at reducing bone destruction. Results showed that after the initial treatment cycle, these children experienced not only a reduction of bone loss caused by the disease, but also significant increases in bone mineral content. Furthermore, the number of fractures fell dramatically, indicating that the increase in bone mass was substantial. X-rays suggested new bone formation in 25 of the children.

29. Osteogenesis Imperfecta osteogenesis imperfecta. If your question is not answeredhere, please contact one of our information specialists. http://www.arthritis.org/conditions/DiseaseCenter/osteogenesis_imperfecta.asp

Welcome! Log In Create Profile advanced search Español ... 51 Ways to Be Good to Your Joints Osteogenesis Imperfecta If your question is not answered here, please contact one of our information specialists. What Is It? What Causes It? Treatment Options Resources and Suggestions What Is It? Osteogenesis Imperfecta (os-tee-oh-GEN-e-sis im-purr-FEC-ta) is a group of inherited disorders in which the bones of the body break easily. It results from a defect in the chemical make-up of collagen, which is a protein that acts like glue to hold tissues together and gives strength to bones. It affects children as well as adults. Early diagnosis can help reduce symptoms and prevent complications. What Causes It? Is an inherited disorder than can be passed from parent to child. It is possible that neither parent carries the gene, but a child will still develop the disease. Treatment Options Casts and splints Muscle-strengthening exercises Pain medication Rehabilitative therapy Safety precautions Surgery Resources and Suggestions Visit Your Arthritis Store to request the free Exercise and Your Arthritis brochure.

30. Osteogenesis Imperfecta osteogenesis imperfecta information and links to national and internationalsupport groups, clinics with genetic counselors and geneticists. http://www.kumc.edu/gec/support/osteogen.html

Osteogenesis Imperfecta Osteogenesis Imperfecta Foundation, Inc. (OIF) 804 W. Diamond Avenue, NW, Suite 210 Gaithersburg, MD 20878 Phone: 1-800-981-BONE or (301) 947-0083 Fax: (301) 947-0456 Web site: http://www.oif.org/ E-mail: bonelink@aol.com Osteogenesis Imperfecta Federation Europe (OIFE) Also See: National organizations genetic conditions or birth defects American Academy of Orthopaedic Surgeons The Bones Page , H Plotkin, Shriners Hospital, Montreal Center for the Study of Genetic Bone and Joint Disorders , Case Western Reserve University Little People of America National Osteoporosis Foundation Norsk Forening for Osteogenesis Imperfecta , Norwegian Osteogenesis Imperfecta Foundation Osteogenesis Imperfecta , Association of Genetic Support of Australia Osteogenesis Imperfecta Hub , GenomeLink Osteogenesis Imperfecta , Brittle Bone Society Osteogenesis Imperfecta: heredity and genetics F Matsen, Department of Orthopaedics, University of Washington, Seattle, USA Osteogenesis Imperfecta Mailing List Short Stature and Dwarfism Shriners Hospital Directory Wheeless' Textbook of Orthopedics Family / Individual's Web Sites: Osteogenesis Imperfecta Information on the Internet , family page with links to organizations, resources, listserv, newsgroups, individual and family pages , research, equipment, child abuse issues Peterson Family Page , OI To locate a genetic counselor or clinical geneticist:

31. NIH Guide: NEW RESEARCH STRATEGIES IN OSTEOGENESIS IMPERFECTA NEW RESEARCH STRATEGIES IN osteogenesis imperfecta Release Date December 8, 2000RFA AR01-001 National Institute of Arthritis and Musculoskeletal and Skin http://grants.nih.gov/grants/guide/rfa-files/RFA-AR-01-001.html

NEW RESEARCH STRATEGIES IN OSTEOGENESIS IMPERFECTA Release Date: December 8, 2000 RFA: AR-01-001 National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) ( http://www.nih.gov/niams/ ) National Institute on Aging (NIA) ( http://www.nih.gov/nia/ ) National Institute of Child Health and Human Development (NICHD) ( http://www.nichd.nih.gov/ http://www.health.gov/healthypeople/ http://grants.nih.gov/grants/funding/modular/modular.htm http://www.nih.gov/niams/reports/osteogenimperf.htm ... http://grants.nih.gov/grants/guide/notice-files/NOT-OD-00-048.html ); a complete copy of the updated Guidelines are available at http://grants.nih.gov/grants/funding/women_min/guidelines_update.htm http://grants.nih.gov/grants/guide/notice-files/not98-024.html GrantsInfo@nih.gov http://grants.nih.gov/grants/funding/modular/modular.htm ... ws19h@nih.gov Jill L. Carrington, Ph.D. Biology of Aging Program National Institute on Aging 7201 Wisconsin Avenue, Gateway Building, Room2C231 Bethesda, MD 20892 Telephone: (301) 496-6402 FAX: 301-402-0010 Email: carringtonj@nia.nih.gov

32. Vereniging Osteogenesis Imperfecta Vereniging osteogenesis imperfecta. osteogenesis imperfecta (OI) iseen zeldzame aangeboren aandoening van het steungevende weefsel. http://www.vsop.nl/leden/voi.php

/ LIDORGANISATIES informatie over de VSOP mail ons archief sitemap ... DOSSIERS EN STANDPUNTEN LIDORGANISATIES Vereniging Osteogenesis Imperfecta Opgericht: Aantal leden: Geschat aantal Nederlanders met de aandoening: Osteogenesis imperfecta (OI) is een zeldzame aangeboren aandoening van het steungevende weefsel. De Vereniging Osteogenesis Imperfecta stelt zich onder andere het volgende ten doel: het bevorderen van contacten tussen OI-patiënten en familieleden; het verzamelen van wetenschappelijke informatie over OI en het doorgeven daarvan aan patiënten en andere geïnteresseerden; het stimuleren van genetisch onderzoek en het bevorderen van erfelijkheidsinformatie; het bevorderen van maatschappelijke integratie van OI-patiënten en zonodig hulp bieden bij problemen. De Vereniging Osteogenesis Imperfecta werd in 1982-1983 lid van de VSOP en telt ongeveer 220 leden. Meer informatie Bondige informatie over Osteogenesis Imperfecta vindt u op erfelijkheid.nl Uitgebreide informatie en contactgegevens vindt u op de website van de Vereniging Osteogenesis Imperfecta Mail een wijziging of toevoeging voor deze ledenpagina Mededelingen voor leden OPROEP: deelname 'Vinger aan de pols' In een nieuwe reeks programma’s ‘Vinger aan de pols’ van de AVRO, zal er aandacht worden besteed aan zeldzame aandoeningen.

33. What Is Osteogenesis Imperfecta? osteogenesis imperfecta is a genetic disorder characterized by bonesthat break easily, often from little or no apparent cause. http://allsands.com/Health/Diseases/osteogenesisimp_ryy_gn.htm

What is osteogenesis imperfecta? Osteogenesis Imperfecta is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four forms of this disorder, ranging in severity. What is OI caused from? bodyOffer(892) OI is caused by a genetic defect that affects the body's production of collagen. Collagen is the major protein of the body's connective tissue. A person who has OI has either not enough collagen or a poor quality of collagen, this leads to weak bones that fracture easily. What are the four types of OI and their characteristics? There are four types of Osteogenesis Imperfecta, they are typed for the severity and charactaristics. Type I: Type one OI is the most common and least severe form of OI. A person with type one would have one or more of the following characteristics: Bones that fracture easily, normal or near normal stature. Loose joints and low muscle tone. Sclera (whites of the eyes) usually have a blue, purple or gray tint. Triangular face, thay have a tendency toward spinal curvature. Bone deformity absent or minimal. Brittle teeth and hearing loss are a possibility. Type II: Type two is the most severe form of OI. Most cases have reported death at birth or shortly after. Numerous fractures and severe bone deformity is normal. Small stature with underdeveloped lungs. Collagen is improperly formed.

34. HealthlinkUSA Osteogenesis Imperfecta Links the treatment process. FindWhat. Click here for page 1 of OsteogenesisImperfecta information from the HealthlinkUSA directory. http://www.healthlinkusa.com/231ent.htm

35. The European Calcified Tissue Society - Osteogenesis Imperfecta osteogenesis imperfecta CURRENT PERSPECTIVES AND TREATMENT. CONTENTS.Nick osteogenesis imperfecta- how common, how severe? Fractures http://www.ectsoc.org/reviews/002_bish.htm

OSTEOGENESIS IMPERFECTA - CURRENT PERSPECTIVES AND TREATMENT CONTENTS Nick Bishop MBChB MRCP MD FRCPCH Summary Children with osteogenesis imperfecta (OI) suffer recurrent fractures resulting in pain, deformity and disability. There is no accepted medical therapy for the condition other than symptomatic pain relief, and surgical correction of the deformities; however, recent experience with the bisphosphonate group of drugs suggests that anti-resorptive therapy may reduce fracture frequency, increase bone density, promote remodelling of previously crush-fractured vertebrae, reduce chronic pain and improve mobility in both children and infants. The prospects for preventing disability and deformity, and perhaps improving growth in affected children all seem good. Studies now need to focus on the evaluation of the efficacy of oral therapy and an assessment of the minimal effective dose of intravenous therapy for infants. Osteogenesis imperfecta:- how common, how severe? Fractures, often atraumatic, are the principal manifestation of all forms of osteogenesis imperfecta. The frequency of their occurrence reflects the severity of the underlying bone disease. The fractures tend to occur in clusters, and the number of fractures suffered by an individual with OI reduces with increasing age . In a study of a geographically defined Danish population , the point prevalence of osteogenesis imperfecta at birth was 21.8/100,000, and the population prevalence was 10.6/100,000, suggesting an affected UK population of up to 6,000 individuals of whom 20% (1200) will be children. The severity of the condition ranges from very mild to lethal. Approximately 200 children in the UK are severely affected; these patients have a pressing need for effective treatment of their disease. It is likely that the more mildly affected children might also benefit from such therapy in terms of improving their peak bone mass and thus reducing their fracture risk in later life.

36. Kennedy Krieger Institute Osteogenesis Imperfecta Clinic of...... Print this page osteogenesis imperfecta Clinic Kennedy Krieger Institute, 707 N.Broadway, Baltimore, MD 21205 Director Jay R. Shapiro, MD http://www.kennedykrieger.org/kki/kki_cp.jsp?pid=1470

37. Kennedy Krieger Institute Osteogenesis Imperfecta (OI) Print this page osteogenesis imperfecta (OI) osteogenesis imperfecta (OI) is a geneticdisorder characterized by bones that break easily, often from little or http://www.kennedykrieger.org/kki/kki_diag.jsp?pid=1098

38. Osteogenesis Imperfecta Baby Jonathan's OI Page. osteogenesis imperfecta. What is OsteogenesisImperfecta? Osteogenisis Imperfecta (OI) is a genetic disorder http://ceciliaykerstiens.tripod.com/babyjonathan/id2.html

Get Five DVDs for $.49 each. Join now. Tell me when this page is updated Baby Jonathan's OI Page Osteogenesis Imperfecta Home Jonathan's Story Family Photo Album JOIN our OI Parents Email List Osteogenesis Imperfecta Dr. Plotkin on Bisphosphonates Jonathan's Helmet 1st Year Updates 2nd Year Updates ... Email Us !! What is Osteogenesis Imperfecta? Osteogenisis Imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four recognized types of the disorder, representing extreme variation in severity from one individual to another. For example, a person may have just a few or a as many as several hundred fractures in a lifetime. It is estimated that there are about 20,000 to 50,000 people with OI in the United States. OI is caused by a genetic defect that affects the body's production of collagen. Collagen is the major protein of the body's connective tissue and can be likened to the framework around which a building is constructed. In OI, a person has either less collagen than normal, or a poorer quality of collagen than normalleading to weak bones that fracture easily. The characteristics features of OI vary greatly from person to personeven among people with the same type of OI, and not all characteristics are evident in each case.

39. AAOS Online Service Fact Sheet Osteogenesis Imperfecta osteogenesis imperfecta. osteogenesis imperfecta (OI) literally meansimperfectly formed bones. People with OI have an error (mutation http://orthoinfo.aaos.org/fact/thr_report.cfm?Thread_ID=308&topcategory=About Or

40. Osteogenesis Imperfecta (OI) osteogenesis imperfecta (OI), OI A BRIEF EXPLINATION / KENNEDY KRIEGEROI is a genetic disorder that makes bones break VERY easily . http://hometown.aol.com/quakerparrotb/myhomepage/

htmlAdWH('7008212', '120', '30'); htmlAdWH('7004796', '234', '60'); Main Create Edit Help Osteogenesis Imperfecta (OI) OI A BRIEF EXPLINATION KENNEDY KRIEGER OI is a genetic disorder that makes bones break VERY easily Their are four types Type one is the most common and mildest ,Type one bones are prone to fractures Type two is the most severe form frequently fatal after birth; a few have lived into adolesence. Type bones fracture easily small stature and severe bone deformities. Type fracture easily shorter then normal stature KENNEDY KRIEGER HOSPITAL Kennedy Krieger Hospital is a remarkable childrens hospital .Their OI team includes excellent OI specialist( Dr .Shapiro,MD.) A Nutritionist,An Audiologist,A Physical Therapist and much more .They try to find the best treatment for the Individual.They explain everything in a way you can understand it. They schedule test to help make clear of exactly what your disease is ,and what gene is missing or disformed ,Dr.Shapiro is not an Orthopedic he is an OI specialist OI CLUB/GENE TEST OI CLUB I amy am starting an OI club (in MD.).Mainly for youth but all ages and parent are welcome .The club is in the first stages of planing so suggestions are welcome My Idea are to plan that people with OI can do ,and families to get to know families

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