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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. THE MERCK MANUALSECOND HOME EDITION, Osteogenesis Imperfecta In
osteogenesis imperfecta. osteogenesis imperfecta is a group of disorders of bone formation that make the bones abnormally fragile.
http://www.merck.com/mrkshared/mmanual_home2/sec23/ch279/ch279g.jsp

62. Osteogenesis Imperfecta
osteogenesis imperfecta,. Print this article, osteogenesis imperfecta, Table 1. Classification of osteogenesis imperfecta. Type I,
http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/OSTEOGENESIS I
Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Osteogenesis imperfecta, an inherited disorder of connective tissue in which various structures are affected (skeleton, ligaments, skin, sclerae and denting), expressed either as an abnormal synthesis (quantity) or abnormal structure (quality) of procollagen I. Osteogenesis imperfecta has four major clinical criteria, the presence of two of which are required to make the diagnosis: osteoporosis with abnormal fragility of the skeleton; blue sclera; dentinogenesis imperfecta ; and premature otosclerosis. Among the other manifestations of osteogenesis imperfecta are ligamentous laxity, easy bruisability, constipation, hyperplastic scars and premature vascular calcifications. Although classically two forms have been recognized (the congenita form, which has a high infant mortality rate, and the tarda form, in which life expectancy is normal), a newer classification system based on a combination of clinical, radiographic and genetic factors has largely replaced these terms (Table 1). Osteogenesis imperfecta, Table 1. Classification of osteogenesis imperfecta.

63. Osteogenesis Imperfecta
osteogenesis imperfecta,. Print this article, (OI), inherited metaphysis. Also, see birth trauma musculoskeletal,. osteogenesis imperfecta, Fig. 1.
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/OSTEOGENESIS IMP
Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Osteogenesis imperfecta, (OI), inherited disorder of connective tissue in which there is defective synthesis of collagen and generalized osteoporosis and bone fragility. There is abnormal trabeculation of bone with thinned disconnected trabeculae, cortical thinning and increased cortical porosity and in the majority of cases abnormal type 1 collagen. Most cases involve multiple systems. The skin may be thin and translucent; likewise the sclerae are often thin, appearing blue due to the underlying vascular bed. The teeth may be abnormal due to dentine dysplasia and in some forms there may be early onset of hearing loss. There may be joint laxity and hypermobility and short stature is common. Four major varieties have been described but there are probably several other subtypes. All four share features of osteopenia and easy bone fracture ( Fig.1 ). Other clinical features include ligamentous laxity, bruising and hypoplastic scarring. Type I This type has autosomal dominant inheritance. Clinically, blue sclerae, mild to moderate bone fragility, deafness, normal stature or mild short stature. Fractures may be present at birth. Fractures occur in the toddling to pre-school age but become less frequent after puberty. Bowing deformity of tibiae and fibulae may also occur. There is cortical thinning, thin bones and osteopenia. Wormian bones are present in the skull. There are two subtypes:

64. Osteogenesis Imperfecta - Lucile Packard Children's Hospital
Orthopaedics. osteogenesis imperfecta What is osteogenesis imperfecta? Osteogenesis What causes osteogenesis imperfecta (OI)? The
http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/orthopaedics/oi.html
Hand and Upper Extremity Surgery
Motion and Gait Analysis Laboratory

Obstetrical Brachial Plexus Palsy

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

65. 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
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You are here : AllRefer.com Health Osteogenesis Imperfecta
Osteogenesis Imperfecta
Definition Prevention
Treatment

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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.

66. Virtual Children's Hospital: Paediapaedia: Osteogenesis Imperfecta, Tarda (OI)
osteogenesis imperfecta, Tarda (OI). See related Provider Topics Bones, Joints and Muscles, Genetics/Birth Defects or osteogenesis imperfecta.
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.

67. Virtual Hospital : Health Topics A-Z : Osteogenesis Imperfecta
Health Topics AZ osteogenesis imperfecta. Paediapaedia osteogenesis imperfecta, Congenita (OI) Paediapaedia osteogenesis imperfecta, Tarda (OI)
http://www.vh.org/navigation/vh/topics/pediatric_provider_osteogenesis_imperfect
Health Topics A-Z
Osteogenesis Imperfecta
All Topics Adult Patient Topics Adult Provider Topics Pediatric Patient Topics ... Pediatric Provider Topics
For Pediatric Providers
Paediapaedia: Osteogenesis Imperfecta, Congenita (OI)
Paediapaedia: Osteogenesis Imperfecta, Tarda (OI)

All Topics
Adult Patient Topics ... UI Health Care Home http://www.vh.org/navigation/vh/topics/pediatric_provider_osteogenesis_imperfecta.html

68. HealthlinkUSA Osteogenesis Imperfecta Links
You can find osteogenesis imperfecta right now at Info.com. Click here for page 1 of osteogenesis imperfecta information from the HealthlinkUSA directory.
http://healthlinkusa.com/231ent.htm

69. Osteogenesis Imperfecta
osteogenesis imperfecta. broader Collagen Diseases; Genetic Diseases, Inborn. osteogenesis imperfecta; Great Britain; Charities;.
http://omni.ac.uk/browse/mesh/C0029434L0029434.html
low graphics
Osteogenesis Imperfecta
broader: Collagen Diseases Genetic Diseases, Inborn other: Achondroplasia Adrenal Hyperplasia, Congenital Ataxia Telangiectasia Chromosome Disorders ... Brittle Bone Society The Brittle Bone Society (BBS) is a UK registered charity that was founded in 1971. Its aims are to promote research into the brittle bones diseases (osteogenesis imperfecta) and to provide practical support, advice and encouragement to sufferers and their relatives. The Web site contains information about the Society, its members and services. There is also a series of factsheets on the subject. Osteogenesis Imperfecta Great Britain Charities
Last modified: 27 May 2004

70. Fast Facts On Osteogenesis Imperfecta
osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. osteogenesis imperfecta.
http://www.centraliowaortho.com/osteogenesis imperfecta.htm
Osteogenesis Imperfecta 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 recognized forms of the disorder, representing extreme variation in severity from one individual to another. For example, a person may have just a few or as many as several hundred fractures in a lifetime. While the number of people 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. 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 normal—leading to weak bones that fracture easily. It is often, though not always, possible to diagnose OI based solely on clinical features. Clinical geneticists can also perform biochemical (collagen) or molecular (DNA) tests that can help confirm a diagnosis of OI in some situations. These tests generally require several weeks before results are known, and approximately 10 to 15 percent of individuals with mild OI who have collagen testing, and approximately 5 percent of those who have genetic testing, test for OI despite having the disorder. The characteristic features of OI vary greatly from person to person—even among people with the same type of OI, and even within the same family—and not all characteristics are evident in each case. The general features of the four recognized types of OI, which vary in characteristics and severity, are as follows:

71. Gismo - Osteogenesis Imperfecta
Sezione osteogenesis imperfecta. Cerca. osteogenesis imperfecta Types I, III, and IV Effect of Pamidronate Therapy on Bone and Mineral Metabolism.
http://www.gismonet.it/sezione_39.html
Gruppo Italiano Studio Diagnosi Malattie Metabolismo Osseo Area: pubblica Sezione: Osteogenesis imperfecta Cerca GISMO Osteoporosi Malattia di Paget Altre patologie ... Osteogenesi Imperfecta Monografia del G.I.S.M.O. a cura di S. Adami Azienda Ospedaliera Riabilitazione Reumatologica Valeggio sul Mincio, Verona Skeletal effects and functional outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised placebo-controlled study Ralph Sakkers, Dieke Kok, Raoul Engelbert, Alice van Dongen, Maarten Jansen, Hans Pruijs, Ab Verbout, Dave Schweitzer, Cuno Uiterwaal
Lancet 2004; 363: 1427-31
Intravenous pamidronate treatment in children with moderate to severe osteogenesis imperfecta: assessment of indices of dual-energy X-ray absorptiometry and bone metabolic markers during the first year of therapy
Pekka Arikoski, Brian Silverwood, Vallo Tillmann, Nicholas J. Bishop
Bone vol.34; 3: 539-46
Bone Mass, Size, and Density in Children and Adolescents With Osteogenesis Imperfecta: Effect of Intravenous Pamidronate Therapy
FRANK RAUCH, HORACIO PLOTKIN, LEONID ZEITLIN, FRANCIS H GLORIEUX
J Bone Miner Res 2003;18:610-614

72. Disease Directory : Musculoskeletal Disorders : Congenital Anomalies : Osteogene
AllRefer Health osteogenesis imperfecta (Brittle Bone Disease) - osteogenesis imperfecta (Brittle Bone Disease) information center covers causes, prevention
http://www.diseasedirectory.net/Musculoskeletal_Disorders/Congenital_Anomalies/O
Wednesday, June 02, 2004 Musculoskeletal Disorders Congenital Anomalies
Arthrogryposis

Clubfoot
... Congenital Anomalies : Osteogenesis Imperfecta

73. Orthoseek | Orthopedic Topics | Osteogenesis Imperfecta
osteogenesis imperfecta (or OI) is a group of hereditary disorders characterized by fragile bones, that result in multiple fractures at birth or during
http://www.orthoseek.com/articles/osteogenesis.html
Osteogenesis Imperfecta
What is it? Osteogenesis imperfecta (or OI) is a group of hereditary disorders characterized by fragile bones, that result in multiple fractures at birth or during childhood. Incidence is one per 10,000 live births. What causes it? This is a group of genetic disorders that causes abnormal formation of Type I collagen, found in bones, teeth, sclera and ligaments. In the bones this causes severe osteoporosis. The severe forms of OI (Type II and III) are usually autosomal recessive, while the milder forms (Type I and IV) are autosomal dominant. What are the symptoms? OI is classified usually into four types (Sillence classification) , depending on the genetic, clinical and radiographic characteristics. According to severity, the classification is as follows:
  • Type II - the most severe, usually autosomal recessive, but may be a mutant form of autosomal dominant. Presents with multiple fractures in utero and at birth. Usually lethal in the first few weeks of life.
  • Type III- usually autosomal recessive, and develop fractures at birth or during the neonatal period, which heals with multiple deformities of the limbs. Severe bowing of long bones, triangular facies, severe short stature, and scoliosis.
  • 74. Osteogenesis Imperfecta
    osteogenesis imperfecta comprises a group of conditions which result in several different types of limb shortening (often micromelic) and dwarfism.
    http://www.stevensorenson.com/residents6/osteogenesis_imperfecta.htm

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

    75. Osteogenesis Imperfecta
    osteogenesis imperfecta. Image URL osteogenesis imperfecta, Image URL Skull in osteogenesis imperfecta, Image URL Skull in osteogenesis imperfecta,
    http://www.brisbio.ac.uk/ROADS/subject-listing/osteogenesisimperfecta.html
    A collection of medical, dental and veterinary images for use in teaching. Home About the Archive FAQ Terms and Conditions ... Help
    Osteogenesis Imperfecta
    Osteogenesis imperfecta Skull in osteogenesis imperfecta Skull in osteogenesis imperfecta

    76. Osteogenesis Imperfecta Resources
    helps. Google, osteogenesis imperfecta; osteogenesis imperfecta; osteogenesis imperfecta; osteogenesis imperfecta Pictures; Osteogenesis
    http://www.uxterminal6m.com/osteogenesis-imperfecta.html
    Osteogenesis Imperfecta Resources
    CLICK HERE TO ENTER OSTEOGENESIS IMPERFECTA RESOURCES
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  • 77. Osteogenesis Imperfecta - Medical Dictionary Definitions Of Popular Medical Term
    MedicineNet Home MedTerms medical dictionary AZ List osteogenesis imperfecta. Advanced Search. osteogenesis imperfecta Brittle bone disease.
    http://www.medterms.com/script/main/art.asp?articlekey=4679

    78. Osteogenesis Imperfecta (OI) Links I've Found On The Web
    osteogenesis imperfecta (OI) Links I ve Found on the Web. General Resources. The USA s osteogenesis imperfecta Foundation, Inc.
    http://www.boulder.swri.edu/~joel/oi/
    Osteogenesis Imperfecta (OI) Links I've Found on the Web
    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]

    79. The 11-14-week Scan - Chapter 2.27
    The 1114-week scan. KH Nicolaides, NJ Sebire, RJM Snijders. osteogenesis imperfecta TYPE II. This is a lethal skeletal dysplasia with
    http://www.fetalmedicine.com/11-14scanbook/Chapter2/chap02-27.htm
    The 11-14-week scan
    KH Nicolaides, NJ Sebire, RJM Snijders OSTEOGENESIS IMPERFECTA TYPE II . In the second trimester, the characteristic sonographic features are short limbs and ribs with multiple fractures and hypomineralization of the skull. Death occurs either prenatally or shortly after birth because of respiratory failure. In high-risk pregnancies, prenatal diagnosis can be made by chorionic villus sampling and DNA analysis or demonstration of abnormal collagen production by cultured fibroblasts. Makrydimas et al reported two cases of ostegenesis imperfecta type II in low-risk patients presenting with increased nuchal translucency (3.4 mm and 4.4 mm, repectively) at 11 weeks. In the first case, repeat ultrasound examination at 15 weeks showed multiple fractures, shortening of long bones, rib fractures and hypomineralization of the skull. The diagnosis of osteogenesis imperfecta type II was made and this was confirmed radiographically and by pathological examination after termination of the pregnancy. In the second case, there was obvious shortening of all long bones and ribs at the 11-week scan. There are another three reported cases of osteogenesis imperfecta type II diagnosed in the first trimester, by demonstration of short, fractured femurs and hypomineralization of the skull, but in these reports there is no comment on the measurement of nuchal translucency Return to Contents Page Next..

    80. 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...
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    Note: Regularly scheduled chats are listed on our NEW Online Events Calendar
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    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)

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