41. Osteogenesis Imperfecta osteogenesis imperfecta information and links to national and international support 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:

42. Osteogenesis Imperfecta / Family Village Library The osteogenesis imperfecta Foundation is dedicated to helping people cope This is a place where those who have osteogenesis imperfecta or know those 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 Google for "Osteogenesis Imperfecta" Who to Contact Osteogenesis Imperfecta Foundation 804 W. Diamond Avenue, NW, Suite 210 Gaithersburg, MD 20878 Phone: 301-947-0083 Toll-Free: 800-981-2663 Fax: 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 , 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....".

43. Página En Español Sobre Osteogénesis Imperfecta Translate this page Página en español sobre osteogenesis imperfecta, también conocida como la enfermedad de los huesos de cristal. http://www.osteogenesis.info/

Osteogénesis imperfecta Qué es la osteogénesis imperfecta Investigación y terapia Organizaciones Foros ... Mapa web Bienvenidos Me llamo María Barbero. Mi hijo Pablo tiene osteogénesis imperfecta, una enfermedad congénita bastante rara que afecta a los huesos y a otros tejidos del organismo. Se la suele llamar «la enfermedad de los huesos de cristal», y se abrevia internacionalmente como OI. Se trata de una dolencia con una incidencia relativamente baja entre la población. Los médicos no suelen estar familiarizados con ella; son muy pocos los que tienen experiencia con estos enfermos, y menos aún los que pueden considerarse especialistas. María y Pablo Como ocurre con tantas otras enfermedades, un tratamiento no adecuado puede ocasionar graves perjuicios a los enfermos. Mi intención al preparar mi página es ofrecer a los interesados información general en español sobre la osteogénesis imperfecta y algunos enlaces interesantes (principalmente en inglés) sobre esta enfermedad. No tengo formación médica ni pretendo sentar cátedra con mis opiniones y mis experiencias con la OI. Aunque soy miembro de varias asociaciones de OI, mi página no depende de nadie. Durante los últimos años he ido recopilando información sobre la enfermedad y me gustaría ponerla al alcance de otras familias de afectados, para que no empiecen su búsqueda dando palos de ciego, como yo empecé.

44. Osteogenesis Imperfecta - Genetics Home Reference Where can I find additional information about osteogenesis imperfecta? What other names do people use for osteogenesis imperfecta? http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta

Home What's New Browse Handbook ... Search Osteogenesis imperfecta Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Osteogenesis imperfecta On this page: What is osteogenesis imperfecta? How common is osteogenesis imperfecta? ... help with understanding osteogenesis imperfecta? What is osteogenesis imperfecta? Osteogenesis imperfecta is a group of inherited disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. The condition causes bones to be fragile and easily broken and is also responsible for other health problems. Genetic changes are related to the following types of osteogenesis imperfecta. osteogenesis imperfecta, type I osteogenesis imperfecta, type II osteogenesis imperfecta, type III osteogenesis imperfecta, type IV Researchers have defined three more types of osteogenesis imperfecta (type V, type VI, and type VII), but the genetic causes have not yet been identified. The signs and symptoms of this condition vary widely. Type I osteogenesis imperfecta is the mildest form of the disorder, while type II is the most severe. All forms of osteogenesis imperfecta include fragile bones and frequent bone fractures. Some types are associated with brittle teeth, hearing loss, a blue or grey tint to the part of the eye that is usually white (the sclera), curvature of the spine (scoliosis), and loose joints. People with osteogenesis imperfecta are often shorter than average.

45. Osteogenesis Imperfecta, Type I - Genetics Home Reference What other names do people use for osteogenesis imperfecta, type I? What if I still have specific questions about osteogenesis imperfecta, type I? http://ghr.nlm.nih.gov/condition=osteogenesisimperfectatypei

Home What's New Browse Handbook ... Search Osteogenesis imperfecta, type I Related Gene(s) Quick links to this topic MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Osteogenesis imperfecta, type I On this page: What is osteogenesis imperfecta, type I? How common is osteogenesis imperfecta, type I? ... help with understanding osteogenesis imperfecta, type I? What is osteogenesis imperfecta, type I? Osteogenesis imperfecta is a group of inherited disorders that mainly affect the bones, causing them to be fragile and easily broken. Type I osteogenesis imperfecta is the mildest and most common type of the disorder. Osteogenesis imperfecta, type I is a subtype of osteogenesis imperfecta The signs and symptoms of this condition vary, but osteogenesis imperfecta type I tends to be milder than the other types of osteogenesis imperfecta. Bones are brittle and easily broken. Multiple fractures are common during childhood and adolescence, and often result from minor trauma. People with this condition have a blue or gray tint to the part of the eyeball that is usually white (the sclera). Other signs and symptoms include loose joints, skin that bruises easily, and curvature of the spine (scoliosis). Hearing loss occurs in at least half of people with type I osteogenesis imperfecta, usually beginning in the late teens or early adulthood. Decreased hearing is usually caused by problems with the middle ear bones (conductive hearing loss), but in some cases the inner ear and nerves from the ear to the brain also become involved (mixed conductive and sensorineural hearing loss).

46. Osteogenesis Imperfecta osteogenesis imperfecta (OI) is a genetic disorder characterized by 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:

47. Osteogenesis Imperfecta Study osteogenesis imperfecta study at the Tampa Shriners Hospital. http://www.shrinershq.org/shc/tampa/news/02/oistudy.html

Home Shrine Shriners Hospitals Hospital Directory ... Donation form for mailing Back to Tampa Shriners Hospital New Hope for Children with Osteogenesis Imperfecta The Shriners Hospital for Children in Tampa is participating in a multicenter research study to evaluate the oral drug, alendronate as a possible medical treatment for children with severe Osteogenesis Imperfecta (OI). Alendronate is a drug currently approved by the FDA for use in the treatment of osteoporosis. We wish to determine if taking alendronate for two years will result in thicker, stronger bones, reduce skeletal pain, improve how well patients get about and reduce fracture rates in children with OI. Osteogenesis Imperfecta can literally be translated as "imperfectly formed bones." Most forms of OI are caused by imperfectly formed bone collagen that results from a genetic defect. It is believed that there are between 20, 000 and 40, 000 people with OI in the United States. Patients age 4-18 years who are eligible to participate in this study include type III or IV OI and type I OI with either: chronic pain, 3 or more fractures per year for the previous 2 years, or limb deformity requiring surgical correction. To find out more about this alendronate research study at the Shriners Hospital for Children in Tampa, please contact the Clinical Research Associate, Nancy Pisciotto, RN, ONC at 813-975-7130, or email

48. Welcome To The Website Of The Osteogenesis Imperfecta Society Of Australia osteogenesis imperfecta Society of Australia to offer information and support to individuals and families affected by osteogenesis imperfecta and to http://www.oiaustralia.org/

Australia Osteogenesis Imperfecta (Brittle Bones) Society of Australia Home A bout Us E vents ... inks Related Online Groups A-Z Index Mission Statement "To care for and expand knowledge of the Brittle Boned individual with the objective of improving the quality of life" Click below to read our answers to common questions What is OI ? What research is currently being undertaken? What are the Society's Aims and Objectives? Where can I talk with other people with OI and their families? ... Photograph Gallery OUR EVENTS 'Splash' Swim-athon - 10th September 2005 Adults Information Day - 17th September 2005 learn more at LATEST NEWS Trivia Night Gallery June/July 2005 Newsletter History Info Membership form available print, fill out and post back to the Society

49. GeneReviews: Osteogenesis Imperfecta Your browser does not support HTML frames so you must view osteogenesis imperfecta in a slightly less readable form. Please follow this link to do so. http://www.genetests.org/query?dz=oi

50. Osteogenesis Imperfecta - Wikipedia, The Free Encyclopedia osteogenesis imperfecta (OI), commonly known as brittle bone disease, There are no known cures for osteogenesis imperfecta, with the emphasis being on http://en.wikipedia.org/wiki/Osteogenesis_imperfecta

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Osteogenesis imperfecta From Wikipedia, the free encyclopedia. Osteogenesis imperfecta OI ), commonly known as brittle bone disease , is a group of genetic bone disorders. People with OI do not produce enough good quality collagen to produce healthy, strong bones. Collagen is an important protein and without a good enough supply the bones are weak and break very easily. As a genetic disorder, OI is a autosomal dominant defect. Most people with OI receive it from a parent but it can also be an individual ( de novo or "sporadic") mutation. Contents Types Type I Type II Type III ... edit Types There are four types of OI, though the symptoms range from person to person. Type I is the most common and mildest form, followed by Type IV, Type III and Type II. edit Type I Collagen is normal but not of a high enough quantity Bones fracture easily, especially before puberty Slight spinal curvature Loose joints Poor muscle tone Discolouration of the sclera (whites of the eyes) Early loss of hearing edit Type II Collagen is not of a sufficient quality or quantity Most cases die before adulthood Severe respiratory problems due to underdeveloped lungs Severe bone deformity and small stature edit Type III Collagen quantity is sufficient but is not of a high enough quality Bones fracture easily, sometimes even before birth

51. Uhrad.com - Pediatric Imaging Teaching Files Diagnosisosteogenesis imperfecta. Discussion osteogenesis imperfecta is a relatively common heterogeneous disorder characterized and subclassified by age 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.

52. Uhrad.com - Pediatric Imaging Teaching Files Diagnosisosteogenesis imperfecta. Discussion osteogenesis imperfecta (OI) is a rare hereditary disorder characterized by an unusual fragility of bone, http://www.uhrad.com/pedsarc/peds042.htm

uhrad.com - Pediatric Imaging Teaching Files Case Forty Two - Osteogenesis Imperfecta. Click on Images for Enlarged View Clinical History: Signs often include fragile bones, thin skin, blue sclera, poor dentition and hypermobility of the joints. Radiologic Findings: Osteopenia with multiple fractures accompanied by deformities. Diagnosis: Osteogenesis Imperfecta. Discussion: References: 1. Juhl J, Crummy A, Paul and Juhl's Essentials of Radiologic Imaging, 5th ed, Lippincott 1987. 2.Taveras J, Ferrucci J, Radiology, Diagnosis-Imaging-Intervention, Lippincott. Return to Pediatric Imaging Page Submitted by: Richard Patterson, M.D. Sheila C. Berlin, M.D. Carlos Sivit, M.D. Rainbow Babies and Children's Hospital

53. Parenting A Child With Osteogenesis Imperfecta Information for parents on diagnosing, treating, and caring for a child with osteogenesis imperfecta. http://specialchildren.about.com/od/osteogenesisimperfecta/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Parenting Special Needs Medical Issues Osteogenesis Imperfecta Special Children Essentials Back to School Parenting How-To's ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Parenting Special Needs newsletter! See Online Courses Search Parenting Special Needs Osteogenesis Imperfecta Information for parents on diagnosing, treating, and caring for a child with Osteogenesis imperfecta. Alphabetical Recent Up a category About Osteogenesis Imperfecta Information from the About.com guide to Rare and Orphan Diseases. Osteogenesis Imperfecta Foundation Resources for parents, patients and professionals, including chat, support groups and a phone number for those seeking immediate assistance. Fact Sheets on Osteogenesis Imperfecta Help with issues ranging from caring for infants and children with OI to nutrition and dental care to allegations of child abuse. From the National Institutes of Health Osteoporosis and Related Bone Diseases National Resource Center. OI Online Groups A listing of e-mail support groups, from the OI Society of Australia.

54. Osteogenesis Imperfecta Detailed information on osteogenesis imperfecta, including causes, types, symptoms, diagnosis, treatment, and management. http://www.healthsystem.virginia.edu/uvahealth/peds_orthopaedics/oi.cfm

[ Skip Navigation ] Health System Home For Health Answers Healthcare Professionals ... Advanced Search Health System Search Search for Information People UVa Home Health System News Health System Events (all) Health System Publications ... Making a Gift Topics Adolescent Medicine Allergy/Asthma/Immunology Blood Disorders Burns Cancer Common Injuries/Poison Tips Craniofacial Anomalies Dermatology Diabetes/Endo/Metabolism Eye Care Genitourinary/Kidney High-Risk Newborn High-Risk Pregnancy Infectious Diseases Medical Genetics Mental Health Nervous System Disorders Normal Newborns Oral Health Orthopaedics Pediatric Surgery Respiratory Disorders Terminal Illness in Children Transplantation UVa Health Topics A to Z FIND A DOCTOR Pediatric Neurosurgery Pediatric Orthopaedic Surgery Pediatric Rehabilitation ... CLINICAL TRIALS Search This Site 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. OI can affect males and females of all races. What causes osteogenesis imperfecta (OI)?

55. Osteogenesis Imperfecta osteogenesis imperfecta. hypophosphatasia. osteodysplasia. Etiology. developmental. Tissue of Origin. bone connective tissue matrix http://www.dental.mu.edu/oralpath/lesions/osteoimperfect/osteoimperfect.htm

Osteogenesis Imperfecta A spectrum of diseases of bone due to a basic alteration in the formation of bone connective tissue matrix, resulting in an inability of the matrix to fully mineralize,, a tendency for multiple broken bones, blue sclera of the eyes, and associated dentinogenesis imperfecta Clinical Features: fragile bones resulting in multiple fractre and defomity of long bones may be born with multiple fractures just from birth process blue sclera opalescent dentin hearing loss hyperthermia large skull with prominent frontal bossing Types: Type I neonatal lethal - most common and mildest form Type II severe nonlethal - most severe form resulting in mutiple fractures just from birth process Type III moderate and deforming - most severe form beyond the perinatal period Type IV mild nondeforming - mild to moderately severe bone fragility Radiographic Features: multipe fractures and healed fractures spinal scoliosis bulbous crowns of teeth, obliteration of pulpal chambers and shortened roots unilocular radiolucencies on both sides of the mandible wormian bones in the skull Differential Diagnosis: osteogenesis imperfecta hypophosphatasia osteodysplasia Etiology: developmental Tissue of Origin: bone connective tissue matrix Histologic Features: abnormal bone bone remains immature with markedly thinned cortices trabeculae are short, thin, widely spaced and disorganized

56. Osteogenesis Imperfecta osteogenesis imperfecta comprises a group of conditions which result in several different types of limb Four types of osteogenesis imperfecta exist 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")

57. Clinical Trial: Growth Hormone Therapy In Osteogenesis Imperfecta Growth deficiency is a key feature of severe osteogenesis imperfecta (OI) and a osteogenesis imperfecta, Drug Humatrope Drug GRH Drug Nutropin http://www.clinicaltrials.gov/ct/gui/show/NCT00001305

Home Search Browse Resources ... About Growth Hormone Therapy in Osteogenesis Imperfecta This study is currently recruiting patients. Verified by National Institutes of Health Clinical Center (CC) October 6, 2003 Sponsored by: National Institute of Child Health and Human Development (NICHD) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose We have studied growth in OI children for the past 10 years. Different medications have been tried to both stimulate growth and improve bone density. Some children have responded to growth hormone (their growth rate increased by at least 50%) and some did not. The majority of children who did respond were Type IV. However, we need to carefully treat and study more children to try to determine which children will benefit from growth hormone medication. The Goals of this Study Are: 1. We want to try to find a cause for the growth plateau common in types III and IV OI. Long-term, our goal is to develop a treatment to eliminate this plateau. 2. We want to see how long and how well OI bone will respond to growth stimulation.

58. Clinical Trial: Bisphosphonate Treatment Of Osteogenesis Imperfecta osteogenesis imperfecta, Drug Zoledronic Acid, Phase II MedlinePlus related topics osteogenesis imperfecta Genetics Home Reference related topics http://www.clinicaltrials.gov/ct/gui/show/NCT00063479

Home Search Browse Resources ... About Bisphosphonate Treatment of Osteogenesis Imperfecta This study is currently recruiting patients. Verified by Novartis August 2005 Sponsored by: Novartis Information provided by: Novartis ClinicalTrials.gov Identifier: Purpose The primary purpose of this trial is to evaluate whether the investigational medication is safe, effective and has the ability to increase spine bone density in osteogenesis imperfecta (OI) patients. Condition Intervention Phase Osteogenesis Imperfecta Drug: Zoledronic Acid Phase II MedlinePlus related topics: Osteogenesis Imperfecta Genetics Home Reference related topics: osteogenesis imperfecta Study Type: Interventional Study Design: Treatment, Randomized, Open Label, Active Control, Parallel Assignment, Safety/Efficacy Study Further Study Details: Study start: June 2003 Eligibility Ages Eligible for Study: 3 Months - 17 Years, Genders Eligible for Study: Both Criteria Inclusion Male or Female children between 3 months and 17 years old OI type I, III or IV

59. Suomen Osteogenesis Imperfecta -yhdistys R.y. Suomen osteogenesis imperfecta yhdistys ry. http://www.suomenosteogenesisimperfecta.fi/

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60. Osteogenesis Imperfecta osteogenesis imperfecta (OI) is a group of genetic diseases of collagen in osteogenesis imperfecta. National Institutes of Health Osteoporosis and http://www.healthatoz.com/healthatoz/Atoz/ency/osteogenesis_imperfecta.jsp

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