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         Osteogenesis Imperfecta:     more books (39)
  1. A Little More Than Perfect: My Life with (and in Spite of) Osteogenesis Imperfecta by Heather Anderson, 2010-02-23
  2. Osteogenesis Imperfecta - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-04-26
  3. The Official Patient's Sourcebook on Osteogenesis Imperfecta: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-08
  4. Third International Conference on Osteogenesis Imperfecta (Annals of the New York Academy of Sciences) by Giuseppe Cetta, Francesco Ramirez, 1989-03
  5. Brittle Bones, Stout Hearts and Minds: Adults with Osteogenesis Imperfecta by Joan Ablon PhD, 2009-02-11
  6. Osteogenesis imperfecta: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Jennifer, MS Wilson, 2005
  7. Living With Osteogenesis Imperfecta: A Guidebook for Families
  8. Brenda Sue Keihler: Living with Osteogenesis Imperfecta by Ph.D. Gregory L. Jackson, 2006
  9. Gale Encyclopedia of Medicine: Osteogenesis imperfecta by Jennifer F. Wilson MS, 2002-01-01
  10. 21st Century Ultimate Medical Guide to Osteogenesis Imperfecta (OI) - Authoritative Clinical Information for Physicians and Patients (Two CD-ROM Set) by PM Medical Health News, 2009-06-02
  11. Osteogenesis imperfecta: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Jennifer, MS Wilson, Stephanie Sherk, 2006
  12. Osteogenesis Imperfecta: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Jennifer, MS Wilson, 2006
  13. 21st Century Complete Medical Guide to Osteogenesis Imperfecta and Related Bone Disorders, Authoritative Government Documents, Clinical References, and ... for Patients and Physicians (CD-ROM) by PM Medical Health News, 2004-06
  14. Osteogenesis Imperfecta - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18

61. 1Up Health > Osteogenesis Imperfecta > Causes, Incidence, And Risk Factors Of Os
Comprehesive information on osteogenesis imperfecta (Brittle bone disease). Osteogenesisimperfecta Causes, Incidence, and Risk Factors. Alternative names
http://www.1uphealth.com/health/osteogenesis_imperfecta_info.html
1Up Health Osteogenesis imperfecta Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Osteogenesis imperfecta Information Osteogenesis imperfecta Causes, Incidence, and Risk Factors Alternative names : Brittle bone disease Definition : Osteogenesis imperfecta is a congenital (present from birth) condition of abnormal fragility of the bones.
Causes, Incidence, and Risk Factors
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. The defect may be acquired by a spontaneous mutation occurring in the individual egg or sperm that formed the child. In this case, neither parent carries a gene for the disorder or is affected by it. The parents, in this case, are no more at risk than the general population for having another child with the disorder.

62. Health Information Resource Database: Osteogenesis Imperfecta Foundation, Inc.
osteogenesis imperfecta Foundation, Inc. Contact Information. ExecutiveDirector 804 West Diamond Avenue, Suite 210 Gaithersburg, MD 20878.
http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR0582

63. Osteogenesis Imperfecta At Linkable.org - Homepages Of People Who Have A Disabil
(Please click on the above banner/s to visit our Sponsor/s) Linksto Home Pages of People who have osteogenesis imperfecta (OI),
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Osteogenesis Imperfecta (O.I.) Third International Conference on...
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... Baby Jonathan's OI Page - This site is a help to parents of infants and toddlers who have Osteogenisis Imperfecta (OI), more commonly known as Brittle Bone Disease. It has helpful hints, offers hope and provides a OI Email Discussion List to join other parents who would like to share info about this condition with each other. My name is Cecilia Kerstiens. The site is about my grandson, Jonathan Phelps who is 21 months old. He has OI. Bonnie's Page - Welcome y'all! Glad ya could make it! As ya can tell, I am a smart ass, so if you dont have a sense of humor I suggests ya dippity do da! Miss Dee Dee "B" - I have a brittle bone disease called Osteogenesis Imperfecta (O.I. for short). This page is mostly about me, plus many more interesting pages included. Osteogenesis Imperfecta (OI), by Amy Schultz

64. Osteogenesis Imperfecta-Bone Diseases And Disorders
Bone Diseases. osteogenesis imperfecta. What is osteogenesis imperfecta? OI canaffect males and females of all races. What causes osteogenesis imperfecta?
http://www.umm.edu/bone/oi.htm

Bone Diseases
What is Bone? Bone Cancers... Diagnostic Procedures ... Glossary
Related Resources Within UMM Dept. of Orthopaedics Kernan Hospital Skeletal Radiology Bone Diseases
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. 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 causes osteogenesis imperfecta?
The cause of 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 types and symptoms of OI?
The following are the most common symptoms for osteogenesis imperfecta. However, each individual may experience symptoms differently. Although symptoms may vary, generally they are used to classify the four forms of OI, each of which represents the 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 the following:

65. Mona's Osteogenesis Imperfecta Page
Read my Dreambook! Sign my Dreambook! Dreambook. Email Me ). How To Help Mona.Facts on osteogenesis imperfecta. Links Page. Our Chat Schedule. UPDATE 01/01/01
http://www.angelfire.com/mn/monasoipage/oi.html
Hi, Welcome To Mona's OI Page.
My name is Mona and I have Osteogenesis Imperfecta or "Brittle bone disease"I was born in Germany in 1971 and at the time of my birth I had 136 broken bones, some inuerto (inside my mom) and some as I was born. I wasn't expected to live and when the doctor told my mom this she yelled at the doctor and got one fired for making such an assumption! I only weighed 2300 grams and I was about 42 centimeters long. The doctors said I wouldn't live at all, maybe 10 days max. After those 10 days they said I may live 3 years. Here I am at 28 years old. I am 3 feet tall and 50 pounds. My voice is very high-pitched and my head is flat in the back because I was born with no bones in my head. Thankfully I have a beautiful head of blond/brown hair .(And people say I'm hard headed). I also cruise around in an electric wheelchair. If people don't move I'll run over their toes. I'm putting out this page so people with OI have a place to give their testimony, for those we love and those who love us to have a place to learn more about this genetic disorder And mostly so we can learn more about this. Because I look a lot younger than I am it's hard to put my self out there and look mature, an adult. Boy do I blow them away when they see I'm an adult! The first page is about me, an introduction from my stand point. The second page is the medical terminology and diagnosis regarding OI and the levels of it.

66. Virtual Children's Hospital: Paediapaedia: Osteogenesis Imperfecta, Congenita (O
Paediapaedia Musculoskeletal Diseases osteogenesis imperfecta, Congenita (OI).Michael P. D'Alessandro, MD Peer Review Status Internally Peer Reviewed
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 See related Provider Topics Bones, Joints and Muscles Genetics/Birth Defects or Osteogenesis Imperfecta See related Patient Topics Bones, Joints and Muscles or Genetics/Birth Defects Virtual Children's Hospital Home Virtual Hospital Home Site Map ... UI Health Care Home http://www.vh.org/pediatric/provider/radiology/PAP/MSDiseases/OsteogenImpCongenita.html

67. Virtual Children's Hospital: Paediapaedia: Osteogenesis Imperfecta, Tarda (OI)
Paediapaedia Musculoskeletal Diseases osteogenesis imperfecta, Tarda (OI).Michael P. D'Alessandro, MD Peer Review Status Internally Peer Reviewed
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.

68. Osteogenesis Imperfecta Program, Alfred I. DuPont Institut
osteogenesis imperfecta PROGRAM. INTRODUCTION The osteogenesis imperfecta CURRENTADVANCEMENTS IN osteogenesis imperfecta. Diagnosis of Osteogenesis
http://gait.aidi.udel.edu/res695/homepage/pd_ortho/clinics/ost_imp/ostimp.htm
OSTEOGENESIS IMPERFECTA PROGRAM INTRODUCTION: The Osteogenesis Imperfecta Program at the Alfred I. duPont Institute is organized as a subdivision of the Department of Orthopaedics . The program specializes in the management of this rare condition marked by brittle bones which are especially at risk for fracture. The Osteogenesis Imperfecta clinic team includes the family, orthopaedist physical therapist, nurse and adaptive aquatic staff. The mission of the Osteogenesis Imperfecta program is to provide the highest quality multi-disicplinary care by maximizing the function of the child and providing education to family. Treatment plans are designed to correct the existing deformities, and to avoid future deformities by combining state of the art fracture care with prophylactic management of brittle bones using internal supports and external orthotic devices. CURRENT ADVANCEMENTS IN OSTEOGENESIS IMPERFECTA Diagnosis of Osteogenesis Imperfecta using Dual-Energy X-ray Absorptiometry (DEXA) CONTACT INFORMATION: To discuss a specific case or to arrange a referral, contact the Director of the

69. MedWebPlus Web Site ID 2469
and easily. BrighamRAD Teaching Case Database osteogenesis imperfectaby Ariane Staub Neish, Carl S. Winalski. July 25, 1995. http
http://www.medwebplus.com/obj/2469

70. SupportPath.com: Osteogenesis Imperfecta
SupportPath.com, osteogenesis imperfecta. Professional Organizations of Interest None Listed. Clinical Trials Research on osteogenesis imperfecta
http://www.supportpath.com/sl_o/osteogenesis_imperfecta.htm
Osteogenesis Imperfecta
Also called: Brittle bones, fragilitis ossium, hypoplasia of the mesenchyme, Osteopsathrosis Other topics of interest on SupportPath.com:
Attention Deficit Disorder (ADD)
Dental Health Hearing Impairment Mitral Valve Prolapse ... here
Online Communities / Message Boards...
  • None Listed
Online Chats...
Note: Regularly scheduled chats are listed on our NEW Online Events Calendar
Links in this section are primarily to chat rooms open 24/7 which may or may not be moderated.
  • None Listed
Usenet Groups...
Note: Your browser must be properly configured to access Usenet groups from this site.
Mailing Lists...
  • None Listed
National / International Organizations...
  • AUSTRALIA
    Osteogenesis Imperfecta Society of Australia
    Website:
    http://www.oiaustralia.org/
    Description: Their mission is "to care for and expand knowledge of the Brittle Boned individual with the objective of improving the quality of life". Website features general information, newsletters, and links.
    Date Added: 05/22/2002
  • UNITED STATES
    Osteogenesis Imperfecta Foundation, Inc. (OIF)

71. Health Library: All Topics: O: Osteogenesis Imperfecta - Healthfinder®
Caring for Children with OI (osteogenesis imperfecta) osteogenesis imperfecta(OI) can literally be translated as imperfectly formed bones.
http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=612

72. Nemours.org - Osteogenesis Imperfecta - Case Study
Nemours Case Studies Rosalyn osteogenesis imperfecta. Further testing led to thediagnosis of osteogenesis imperfecta (OI), also known as brittle bone disease.
http://www.nemours.org/no/cases/osteogenesis.html

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73. Nemours.org - Osteogenesis Imperfecta Program - Alfred I. DuPont Hospital For Ch
The osteogenesis imperfecta (OI) program at AI.duPont Hospital treats bluesclera and ligamentous laxity through therapy and imaging techniques.
http://www.nemours.org/no/aidhc/svcs/div2025.html

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Osteogenesis Imperfecta Program Osteogenesis Imperfecta (OI) is a congenital disorder characterized by frequent bone fractures. These fractures are due to a collagen defect in the bone that causes the bones to become brittle. There are several different types of OI with varying degrees of severity and subsequent disability of those involved. The mission of the Osteogenesis Imperfecta Program is to provide the highest quality of multidisciplinary care to pediatric OI patients and their families. The program is dedicated to maximizing the function of the child and to providing education to the families and associated health care providers. The clinic members and family work together in determining the child's specific needs regarding seating, adaptive equipment, counseling, and orthopedic intervention as appropriate. The team consists of the family, an orthopedic surgeon, and therapeutic services, clinical nursing, and adaptive aquatics experts. Complete subspecialty care and consultation is available as needed in Therapeutic and Rehabilitation Services, Orthotics, and Dentistry. The hospital's therapeutic services team will provide outpatient therapy on an outpatient basis. These therapies may include developmental stimulation, splinting, gait training, adaptive aquatic exercise, and ADL training.

74. Osteogenesis Imperfecta Foundation: Treatments And Research
Medical Treatments and Research Information. Forteo Developed for thetreatment of severe osteoporosis, this drug is the latest buzz
http://oif.convio.com/site/PageServer?pagename=Medical

75. Osteogenesis Imperfecta Foundation: CBBF Grant Application
CBBF) invites grant applications for basic and/or clinical research projects to developnovel strategies for treatment of osteogenesis imperfecta (OI) or into
http://oif.convio.com/site/PageServer?pagename=CBBFGrantApp

76. Nature Publishing Group
5 Number 5 p 466 osteogenesis imperfecta calls for cautionsecond letter NJ BishopDivision of Child Health University of Sheffield Sheffield S10 2TH, UK
http://www.nature.com/cgi-taf/DynaPage.taf?file=/nm/journal/v5/n5/full/nm0599_46

77. Nature Publishing Group
doi10.1038/8327 May 1999 Volume 5 Number 5 pp 466 467 Reply to osteogenesis imperfectacalls for caution Edwin M. Horwitz 1 , Darwin J. Prockop 2 , Lorraine
http://www.nature.com/cgi-taf/DynaPage.taf?file=/nm/journal/v5/n5/full/nm0599_46

78. Health Library - Osteogenesis Imperfecta
osteogenesis imperfecta. In most cases, the various forms of osteogenesisimperfecta are inherited as autosomal dominant traits. . Resources.
http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

79. Osteogenesis Imperfecta
MAIN SEARCH INDEX osteogenesis imperfecta. ligaments. In osteogenesis imperfecta,the collagen produced is abnormal and disorganized. This
http://www.hendrickhealth.org/healthy/000996.htm
MAIN SEARCH INDEX
Osteogenesis imperfecta
Definition
Osteogenesis imperfecta (OI) is a group of genetic diseases of collagen 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 abnormal and disorganized. This results in a number of abnormalities throughout the body, the most notable being fragile, easily broken bones. There are four forms of OI, Types I through IV. Of these, Type II is the most severe, and is usually fatal within a short time after birth. Types I, III, and IV have some overlapping and some distinctive symptoms, particularly weak bones. Evidence suggests that OI results from abnormalities in the collagen gene COL1A1 or COL1A2, and possibly abnormalities in other genes. In OI Type I, II, and III, the gene map locus is 17q21.31-q22, 7q22.1, and in OI Type IV, the gene map locus is 17q21.31-q22. In OI, the genetic abnormality causes one of two things to occur. It may direct cells to make an altered collagen protein and the presence of this altered collagen causes OI Type II, III, or IV. Alternately, the dominant altered gene may fail to direct cells to make any collagen protein. Although some collagen is produced by instructions from the normal gene, an overall decrease in the total amount of collagen produced results in OI Type I.

80. Osteogenesis Imperfecta:Health Topics:UI Health Care
osteogenesis imperfecta. osteogenesis imperfecta is an extremely raredisorder seen mostly in infancy or childhood. The disease is
http://www.uihealthcare.com/topics/bonesjointsmuscles/bone3443.html
Health Topics Category Index Health Topics for Bones, Joints and Muscles Bone and Muscle Cancer Department of Orthopaedics ... UI Back Care - UI Health Care's digital library Send comments and questions to
staff@uihealthcare.com

University of Iowa
Osteogenesis Imperfecta
Osteogenesis imperfecta is an extremely rare disorder seen mostly in infancy or childhood. The disease is caused by a genetic disorder that affects collagen development. Collagen is a protein important to the development of bones and other tissues, such as tendons, skin, and ligaments. This lack of collagen results in broken bones and deformity. This disease can have mild to very severe symptoms and can be difficult to diagnose. The diagnosis is based on patient symptoms such as:
  • history of fractures height bone deformity walking problems (sometimes due to unrecognized fractures) and hearing loss
There are currently no treatment therapies that can alter growth or fracture rates. For this reason, the treatment of osteogenesis imperfecta is directed toward maintaining function by:
  • reducing the risk of broken bones, through preventive measures

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