61. OMIM - OSTEOGENESIS IMPERFECTA CONGENITA; OIC http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166210

62. About - Osteogenesis Imperfecta. osteogenesis imperfecta. University of Washington, Seattle osteogenesis imperfecta (OI) is a group of inherited disorders in which the most common http://www.orthop.washington.edu/uw/osteogenesis/tabID__3376/ItemID__43/Articles

63. Symptoms - Osteogenesis Imperfecta. osteogenesis imperfecta. University of Washington, Seattle. Last updated Thursday, December 23, 2004. Previous Page Next Page . Symptoms. Symptoms http://www.orthop.washington.edu/uw/osteogenesis/tabID__3376/ItemID__43/PageID__

Home Site Map Contact Us Links ... All Articles Osteogenesis Imperfecta. University of Washington, Seattle Last updated Thursday, December 23, 2004 Symptoms Symptoms There are four distinct types of OI: types I, II, III, and IV. The type of OI is consistent, or "runs true," in a family. For example, a parent with OI type IV will not have a child with OI type III. The diagnosis of the type of OI is made based upon information obtained from the person's physical examination, family history, and X-ray studies. A skin biopsy often is done. This involves removing a tiny piece of skin, usually from the back of the arm. The skin cells are grown in culture and the collagen is studied. OI Type I OI type I is the most common type of OI. It is inherited in an autosomal dominant pattern but may occur as a result of a spontaneous mutation. People with OI type I have an average of 20 to 40 fractures before puberty. Fewer fractures occur after puberty. Prenatal diagnosis often is possible. People with OI type I have one or more of the following features: fragile bones triangular-shaped face blue sclerae (the white part of the eye) hearing loss beginning in the teens, twenties, or thirties

64. Healthfinder® - Osteogenesis Imperfecta Carefully selected government and nonprofit health information on osteogenesis imperfecta. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=612

65. Healthfinder® — Osteogenesis Imperfecta Foundation, Inc. - OIF The osteogenesis imperfecta Foundation is a voluntary national health organization dedicated to improving the quality of life for individuals affected by OI http://www.healthfinder.gov/orgs/HR0582.htm

Help Advanced Search News Library ... Organizations Osteogenesis Imperfecta Foundation, Inc. - OIF Organization URL(s) bonelink@oif.org www.oif.org/ Other Contact Information 804 West Diamond Avenue, Suite 210 Gaithersburg, MD 20878 800-981-2663 (Voice - Toll-free) 301-947-0083 (Voice) 301-947-0456 (FAX) Description The Osteogenesis Imperfecta Foundation is a voluntary national health organization dedicated to improving the quality of life for individuals affected by OI through education, awareness, mutual support and research into improved treatments and an eventual cure. Resources and programs include a quarterly newsletter, a physician information service, written literature, informative videos, a pen pal program for children, national conferences, and local support groups. Research grants are awarded each year. Osteogenesis imperfecta is a highly variable, inherited disorder whose main feature is fragile bones, which fracture easily. Other symptoms may include blue sclerae, hearing loss, loose joints, lax ligaments and short stature. Many individuals with OI have only some- not all - of the clinical features. Online Resources OI (Osteogenesis Imperfecta) Issues: Caring for Infants and Children http://www.oif.org/site/PageServer?pagename=InfChild

66. Osteogenesis Imperfecta To qualify you must, Have osteogenesis imperfecta and be at least 18 years of age May help develop new therapy for others 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

67. Orthopaedics - Osteogenesis Imperfecta The cause of osteogenesis imperfecta (OI) is believed to be due to a The following are the most common symptoms for osteogenesis imperfecta (OI). http://www.schneiderchildrenshospital.org/peds_html_fixed/peds/orthopaedics/oi.h

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. OI can affect males and females of all races. 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. 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: Type I: most common bones fracture easily can usually be traced through the family near normal stature or slightly shorter blue sclera (the normally white area of the eye ball) dental problems hearing loss beginning in the early 20s and 30s most fractures occur before puberty; occasionally women will have fractures after menopause

68. Osteogenesis Imperfecta CHC Wausau Hospital s Medical Library and Patient Education Center provides research services and healthcare information to physicians, http://www.chclibrary.org/micromed/00059220.html

Main Search Index Definition Description Causes ... Resources Osteogenesis imperfecta Definition Osteogenesis imperfecta (OI) is a group of genetic diseases in which the bones are formed improperly, making them fragile and prone to breaking. Description Collagen is a fibrous protein material. It serves as the structural foundation of skin, bone, cartilage, and ligaments. In osteogenesis imperfecta, the collagen produced is faulty and disorganized. This results in a number of defects throughout the body, the most notable being fragile, easily broken bones. OI affects equal numbers of males and females. It occurs in about one of every 30,000 births. There are four forms of OI, called Types I through IV. Of these, Type II tends to be the most severe, and is usually fatal within a short time of birth. Types I, III, and IV have some overlapping and some distinctive symptoms. These include: Weak bones which break (fracture) easily. In some forms of OI, these fractures puberty ; people with OI Type III may have more than 100 fractures before puberty. Fractures often decrease in frequency after puberty, although women with OI have increasing numbers of fractures after menopause Loose, unstable joints (due to abnormal structure of the ligaments), resulting in a high risk of dislocation.

69. AllRefer Health - Osteogenesis Imperfecta (Brittle Bone Disease) osteogenesis imperfecta (Brittle Bone Disease) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, http://health.allrefer.com/health/osteogenesis-imperfecta-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Osteogenesis Imperfecta Osteogenesis Imperfecta Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Brittle Bone Disease Definition Osteogenesis imperfecta is a congenital (present from birth) condition of abnormal fragility of the bones. Pectus Excavatum This bone disorder is usually present at birth as an inherited disease. Osteogenesis imperfecta (OI) is classified into four major types (and further subtypes). All four types of OI are caused by defects in the amount or structure of Type 1 collagen, an important part of the bone matrix. The collagen problem usually results from a dominant genetic defect. This defect may be acquired by several different mechanisms: The defect may be inherited in an autosomal dominant pattern from an affected parent. This means that an affected parent, who carries a single gene for the disorder, has a 50% chance of having children with the disorder. Any child who inherits this gene will be affected.

70. Endotext.com - Diabetes, Osteogenesis Imperfecta osteogenesis imperfecta Chapter 17 Joan C. Marini and Anne D. Letocha Conventional management of osteogenesis imperfecta involves intensive physical http://www.endotext.org/parathyroid/parathyroid17/parathyroid17.htm

OSTEOGENESIS IMPERFECTA Chapter 17 - Joan C. Marini and Anne D. Letocha July 22, 2002 Contents Contributors Search INTRODUCTION Osteogenesis imperfecta (OI), also known as Brittle Bone Disease, is a heritable disorder of connective tissue. Its hallmark feature is bone fragility, with a tendency to fracture from minimal trauma or from the work of bearing weight against gravity. In the more severe forms of the disorder, the bones are deformed as well as fragile. Most individuals with OI have significant physical handicaps. Affected persons also exhibit an array of associated features, including short stature, macrocephaly, blue sclerae, dentinogenesis imperfecta, hearing loss and neurological and pulmonary complications. There is no preferential distribution of osteogenesis imperfecta by gender, race, or ethnic group. Osteogenesis imperfecta is a paradigm for the clinical management and genetic analysis of a dominant disorder of a structural protein. OI developed as a paradigm for a dominant disorder of structural protein because it is not rare and its etiology of type I collagen defects has been known for about two decades. The incidence of forms of OI recognizable at birth is 1/16-20,000, with about equal incidence of mild forms that are not recognizable until later in life. (1) OI and Marfan's Syndrome share the distinction of being the most common heritable connective tissue disorders.

71. Osteogenesis Imperfecta (OI) Known in laymen s terms as brittle bone disease, osteogenesis imperfecta (OI) is characterized by abnormal fragility of the bones. http://www.stjude.org/disease-summaries/0,2557,449_2166_2945,00.html

@import url(/StJude/CDA/Common/CSS/default.css); @import url(/StJude/CDA/Common/CSS/default_lists.css); @import url(/StJude/CDA/Common/CSS/default_content_types.css); @import url(/StJude/Common/CSS/St_Jude_Clinical_Science); In order for our site to display correctly you will need a newer version of your web browser. The following browsers support numerous web standards including CSS, XHTML, and the DOM (a universal means of controlling the behavior of web pages): v7 or higher (all platforms), Mozilla FireFox (Windows), Camino (Mac OS X), Galeon (Linux GNOME Desktop) or other browser stemming from the Mozilla.org project. Opera v7 or higher (Windows, Linux) Apple's Safari (Mac OS X) Konqueror (Linux KDE Desktop) Microsoft Internet Explorer v6 or higher (Windows) or v5 or higher (Macintosh) St. Jude Children's Research Hospital Finding Cures. Saving Children. About St. Jude News Donate Now Contact Us ... Ways to Help Rare Diseases Home Clinical Science Home Disease Information Rare Diseases Related Topics Brave New Cells for Osteogenesis Imperfecta Edwin M. Horwitz, MD, PhD

72. Brave New Cells For Osteogenesis Imperfecta With the discovery of another blood stem cell that gives rise to bone, St. Jude scientists hope to move one step closer to a cure for osteogenesis http://www.stjude.org/media/0,2561,453_2086_16749,00.html

@import url(/StJude/CDA/Common/CSS/default.css); @import url(/StJude/CDA/Common/CSS/default_lists.css); @import url(/StJude/CDA/Common/CSS/default_content_types.css); @import url(/StJude/Common/CSS/St_Jude_News); In order for our site to display correctly you will need a newer version of your web browser. The following browsers support numerous web standards including CSS, XHTML, and the DOM (a universal means of controlling the behavior of web pages): v7 or higher (all platforms), Mozilla FireFox (Windows), Camino (Mac OS X), Galeon (Linux GNOME Desktop) or other browser stemming from the Mozilla.org project. Opera v7 or higher (Windows, Linux) Apple's Safari (Mac OS X) Konqueror (Linux KDE Desktop) Microsoft Internet Explorer v6 or higher (Windows) or v5 or higher (Macintosh) St. Jude Children's Research Hospital Finding Cures. Saving Children. About St. Jude News Donate Now Contact Us ... Ways to Help Media News Releases No Place Like St. Jude Staff Stories Media Contacts ... Media Related Topics Osteogenesis Imperfecta (OI) Edwin M. Horwitz, MD, PhD

73. Virtual Children's Hospital: Paediapaedia: Osteogenesis Imperfecta, Tarda (OI) osteogenesis imperfecta, Tarda (OI). Michael P. D Alessandro, MD Peer Review Status Internally Peer Reviewed. Clinical Presentation http://www.vh.org/pediatric/provider/radiology/PAP/MSDiseases/OsteogenImpTarda.h

Paediapaedia: Musculoskeletal Diseases Osteogenesis Imperfecta, Tarda (OI) Michael P. D'Alessandro, M.D. Peer Review Status: Internally Peer Reviewed Clinical Presentation: The skin is thin and translucent. Twenty to 30% have dentin dysplasia and abnormal teeth. Blue sclera are present due to the vascular bed showing through the thin sclera. Twenty percent have deafness due to otosclerosis. Also have joint laxity and hypermobility, short stature and congenital hernias. Usually presents in infancy or childhood. Twenty percent have fractures at or near birth. Etiology/Pathophysiology: Due to abnormal formation of osteoid, matrix, and collagen and associated with osteoblastic dysfunction. Usually autosomal dominant but often due to spontaneous mutations. Accounts for 90% of OI disease. Pathology: Not applicable Imaging Findings: See fractures of lower extremities with bowing of long bones. Fractures have exuberant callus formation when healing. Bones have thin cortices and the bone is osteopenic with a decreased trabecular pattern. Genu valgum (knock knees) and coxa vara due to femoral neck fractures are seen. Vertebral body osteopenia leads to biconcave compression deformities. Wormian bones are present. Basilar impression and overhanging occiput (platybasia) can develop. DDX: Wormian Bones OI Cleidocranial dysostosis Pycnodysostosis Congenital hypophosphatasia Congenital hypothyroidism (cretinism) Normal individual References: See References Chapter.

74. Virtual Children's Hospital: Paediapaedia: Osteogenesis Imperfecta, Congenita (O osteogenesis imperfecta, Congenita (OI). Michael P. D Alessandro, MD Peer Review Status Internally Peer Reviewed. Clinical Presentation http://www.vh.org/pediatric/provider/radiology/PAP/MSDiseases/OsteogenImpCongeni

Paediapaedia: Musculoskeletal Diseases Osteogenesis Imperfecta, Congenita (OI) Michael P. D'Alessandro, M.D. Peer Review Status: Internally Peer Reviewed Clinical Presentation: Micromelia and a relatively large head at birth Etiology/Pathophysiology: Due to abnormal formation of osteoid, matrix, and collagen associated with osteoblastic dysfunction. Usually lethal and the patients die due to pulmonary insufficiency. Often autosomal recessive, frequently a spontaneous mutation that manifests at birth. Pathology: Not applicable Imaging Findings: Multiple fractures of various ages. DDX: Short limbed dwarfs - OI has multiple fractures of various ages. References: See References Chapter. Title Page Virtual Children's Hospital Home Virtual Hospital Home Site Map ... University of Iowa http://www.vh.org/pediatric/provider/radiology/PAP/MSDiseases/OsteogenImpCongenita.html

75. Introduction: Osteogenesis Imperfecta - WrongDiagnosis.com Introduction to osteogenesis imperfecta as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/o/osteogenesis_imperfecta/intro.htm

Home Symptoms Diseases Risks ... Diseases Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Osteogenesis imperfecta Next sections Basic Summary for Osteogenesis imperfecta Prevalence and Incidence of Osteogenesis imperfecta Prognosis of Osteogenesis imperfecta Types of Osteogenesis imperfecta ... Causes of Osteogenesis imperfecta Next chapters: Pelvic fracture Skull fracture Slipped epiphysis Pregnancy-associated osteoporosis ... Feedback Introduction: Osteogenesis imperfecta Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints Osteogenesis imperfecta: People with osteogenesis imperfecta (OI) have bones that fracture easily, low muscle mass, and joint and ligament laxity. Researching symptoms of Osteogenesis imperfecta: Further information about the symptoms of Osteogenesis imperfecta is available including a list of symptoms of Osteogenesis imperfecta , other diseases that might have similar symptoms in differential diagnosis of Osteogenesis imperfecta , or alternatively return to research other symptoms in the symptom center Misdiagnosis and Osteogenesis imperfecta: Research more detailed information about misdiagnosis of Osteogenesis imperfecta failure to diagnose Osteogenesis imperfecta , or research misdiagnosis of other diseases Treatments for Osteogenesis imperfecta: Various information is available about treatments available for Osteogenesis imperfecta current research about Osteogenesis imperfecta treatments , or research treatments for other diseases.

76. Osteogenesis Imperfecta Explores the possible role of diet and nutrition in osteogenesis imperfecta. http://www.mindspring.com/~sandysimmons/oi.html

The page: Osteogenesis Imperfecta: The Links to Nutrition that was formerly at this URL has moved to: www.ctds.info/oi.html The doctor of the future will give no medication, but will interest his patients in the care of the human frame, diet and in the cause and prevention of disease. Thomas A Edison Please click on the link to go to the new URL. If you have bookmarked this site, please remember to update your bookmarks with the new URL. If you have linked to this page in the past from your web site, please update your link to point to the new page. By linking to my new page, it will help the search engines find my site under its new URL, and your site will avoid having a broken link when this forwarding page is removed in the near future. Thanks!

77. NFOI Norsk Forening for osteogenesis imperfecta The Norwegian osteogenesis imperfecta Foundation. Meny. Foreningen Diagnosen OINytt Ungdomssiden http://home.c2i.net/nfoi/

Norsk Forening for Osteogenesis Imperfecta The Norwegian Osteogenesis Imperfecta Foundation Meny Foreningen Diagnosen OI-Nytt Ungdomssiden ... Summary in English var site="sm9nfoi2003" Velkommen til NFOIs nettsider! NFOI legger stor vekt på informasjonsarbeid, og et viktig verktøy i dette arbeidet er internettsidene våre. Her finner du oppdatert informasjon om foreningen samt kortfattet informasjon om diagnosen medfødt benskjørhet. Siste nytt: Årsmøtedokumentene 2005 er lagt ut på nett. Les mer her Ble stiftet i 1979 Gir ut bladet OI-Nytt Kan bidra med informasjon om diagnosen Er medlem av Funksjonshemmedes Fellesorganisasjon (FFO) Er medlem av de internasjonale organisasjonene OI-Norden og OIFE Leter du etter noe spesielt? Vi har samlet en god del lenker om OI, rettigheter, funksjonshemning og andre områder. Benytt lenkesiden vår som et utgangspunkt for spennende leting etter mer informasjon. I mangel på gode tilgjengelighetsguider

78. Osteogenesis Imperfecta osteogenesis imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized http://my.webmd.com/hw/health_guide_atoz/nord16.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Osteogenesis Imperfecta Important It is possible that the main title of the report Osteogenesis Imperfecta is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Brittle Bone Disease Ekman-Lobstein Disease Lobstein Disease (Type I) OI Vrolik Disease (Type II) Disorder Subdivisions Osteogenesis Imperfecta Type I Osteogenesis Imperfecta Type II Osteogenesis Imperfecta Type III Osteogenesis Imperfecta Type IV General Discussion Osteogenesis imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. The specific symptoms and physical findings associated with OI vary greatly from case to case. The severity of OI also varies greatly, even among individuals of the same family. OI may be a mild disorder or may result in severe complications. Four main types of OI have been identified. OI type I is the most common and the mildest form of the disorder. OI type II is the most severe. In most cases, the various forms of osteogenesis imperfecta are inherited as autosomal dominant traits.

79. Osteogenesis Imperfecta (OI) Links I've Found On The Web The USA s osteogenesis imperfecta Foundation, Inc. International OI osteogenesis imperfecta page at the University of Washington Department of http://www.boulder.swri.edu/~joel/oi/

Osteogenesis Imperfecta (OI) Links I've Found on the Web General Resources Medical Resources By and About People with OI Other stuff General Resources The USA's Osteogenesis Imperfecta Foundation, Inc. International OI foundations: Europe Australia Belgium Brazil ... United Kingdom , another in the United Kingdom ``Family Village'' The Canadian Osteogenesis Imperfecta Foundation apparently doesn't have a web page, but can be contacted at: 128 Thornhill Cres., Chatham, Ontario N7L 4M3, Canada Phone: 51(9-4) 360025 Fax: 51(9-3) 514043 e-mail: marylouk@usa.net OI discussion groups (e-mail and web-based): Here is information about the first OI electronic mailing/discussion list I knew about. To subscribe to the list, send mail to majordomo@dstc.edu.au with the text subscribe oi in the body of the message. It has an associated archive that is extremely useful and informative. It also contains information for suscribing to the list. To search the archive, go to a search engine (such as www.google.com and enter site:www.dstc.edu.au [OI]

80. Osteogenesis Imperfecta osteogenesis imperfecta Updated December 9, 2004. The Basics osteogenesis imperfecta American Academy of Orthopaedic Surgeons More information grey line http://www.noah-health.org/en/bjm/bone/what/specific/osteogenesis/

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Bone, Joint and Muscle Change text size: Osteogenesis Imperfecta Updated: December 9, 2004 The Basics Osteogenesis Imperfecta American Academy of Orthopaedic Surgeons Care and Treatment Fracture Management Osteogenesis Imperfecta Foundation Child Abuse Issues Is This an Abused Child? OI Foundation Living With Osteogenesis Imperfecta Psychosocial Needs of the Family OI Foundation Researched by NOAH Contributing Editor: NOAH Team NOAH Bone, Joint and Muscle Bone and Muscle Diseases What are Bone and Muscle Diseases? ... Specific Diseases > Osteogenesis Imperfecta Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

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