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    New entry for LEO

    brittle bone disease - Glasknochenkrankheit

    New entry

    brittle bone disease med. - Glasknochenkrankheit

    Examples/ definitions with source references
    Vernon Threadgold suffered from brittle bone disease. Aus: "The Queen and I" von Sue Townsend (Seite 201 letze Zeile)
    AuthorKingdoms23 Feb 07, 21:29
    Comment
    Zum nachahmenswerten Beleg medizinischer Termini und entspr. (Online-)Nachschlagewerken vgl. related discussion: cribriform plate - Siebplatte
    #3AuthorMerl23 Feb 07, 23:51
    Context/ examples
    Osteogenesis imperfecta / brittle bone disease.

    *N. Medicine an inherited disorder characterized by
    extreme fragility of the bones. NOAD

    Osteogenesis imperfecta
    Alternative name/s = brittle bone disease.

    Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is caused by a genetic defect that affects type 1 collagen, an important building block of bone.

    http://www.nlm.nih.gov/medlineplus/ency/artic...

    http://www.nlm.nih.gov/medlineplus/ency/artic...

    http://www.merckmedicus.com/pp/us/hcp/thcp_do...


    OI (OI) osteogenesis imperfecta.
    http://www.merckmedicus.com/pp/us/hcp/thcp_do...

    Osteogenesis Imperfecta (OI)-- commonly known as the "brittle bone" disorder-- is a genetic disorder characterized by bones that break easily, often from little or no apparent cause.
    http://www.oif.org/site/PageServer


    Comment
    Hier sind einige Belege.

    Was ist die Glasknochenkrankheit?
    Die 'Osteogenesis imperfecta' wird als Glasknochenkrankheit bezeichnet, weil die Knochen "wie Glas" brechen.

    http://www.gesundheit.de/wissen/krankheiten/g...

    http://www.bartleby.com/61/23/O0142360.html

    osteogenesis imperfecta
    A hereditary disease characterized by abnormally brittle, easily fractured bones.


    http://www.intelihealth.com/cgi-bin/dictionar...


    http://www.intelihealth.com/IH/ihtIH/WSIHW000...
    #4Authorme1 (236101) 24 Feb 07, 00:00
    Suggestions

    osteogenesis imperfecta {abbr. OI}

    med. -

    Osteogenesis imperfecta



    Context/ examples
    also: brittle bone disease [med.] - die Glasknochenkrankheit {wiss. Osteogenesis imperfecta}

    ICD-10
    "Q 78 Other osteochondrodysplasias
    Q78.0 Osteogenesis imperfecta
    Fragilitas ossium
    Osteopsathyrosis"
    http://www.who.int/classifications/apps/icd/i...

    "Q78- Sonstige Osteochondrodysplasien
    Q78.0 Osteogenesis imperfecta
    Fragilitas ossium
    Osteopsathyrosis"
    http://www.dimdi.de/static/de/klassi/diagnose...

    "osteogensis imperfecta (OI) a collagen disorder due to defective biosynthesis of type I collagen and generally characterized by brittle, osteoporotic, easily fractured bones. Other defects that may appear include blue sclerae, wormian bones, lax joints, and dentinogenesis imperfecta. OI is variable in manifestation and severity and has great molecular, genetic, and clinical heterogeneity. There are four major types (I–IV) plus variants of OI. Type I, the classic, most common, mildest type, is autosomal dominant; called also o. imperfecta with blue sclerae and o. imperfecta tarda. Its eponymic synonyms include Adair Dighton's, Eddowes', Ekman's, Lobstein's, Spurway's, and van der Hoeve's syndrome. Type II, the perinatal lethal type, has at least three clinical and genetic subtypes and may be an autosomal dominant trait, an autosomal recessive trait, or an autosomal dominant new mutation. The dominant type is also called o. imperfecta congenita, neonatal lethal form, and lethal perinatal OI. The recessive form is also called o. imperfecta congenita, Vrolik type of osteogenesis imperfecta, Vrolik's disease, and lethal perinatal OI. Type III, the progressive deforming type, may be autosomal recessive or a new mutation; called also o. imperfecta, progressively deforming, with normal sclerae. Type IV is an autosomal dominant form, called also o. imperfecta with normal sclerae."
    Dorland's Illustrated Medical Dictionary. Copyright 2004. WB Saunders, an Elsevier imprint.
    http://www.merckmedicus.com/pp/us/hcp/thcp_do...

    "Osteogenesis imperfecta
    Syn.: Osteopsathyrosis
    E: osteogenesis imperfecta
    Störung im Aufbau des harten u. weichen Bindegewebes mit abnormer Knochenbrüchigkeit infolge gestörter Kollagensynthese. Genetisch uneinheitliche (dominante Mutationen verschiedener Kollagen-Typ-I-α-Ketten kodierender Gene auf den Chromosomen 17 u. 7), klinisch in 4 Typen eingeteilte Krankheitsbilder."
    Roche Lexikon Medizin, 5. Aufl. © Urban & Fischer 2003
    http://www.gesundheit.de/roche/
    Comment
    Supported.

    Further examples of use:
    "Brittle bone disease (osteogenesis imperfecta) 
    [...]
    Osteogenesis imperfecta (OI) is the most common disease causing fractures in childhood. It also causes fractures in adults.
    OI is a genetic disorder usually resulting from abnormalities of the genes that control the production of a protein called collagen; which is the main protein in bone and essential for its strength. The fragility of bone in OI is due to the collagen problems; it has nothing to do with the calcium part of bone, which is what shows up on X-rays."
    http://www.netdoctor.co.uk/diseases/facts/bri...
     
    "Brittle bone disease is more commonly known as osteogenesis imperfecta (OI). It is a rare, usually inherited disorder that causes bones to break easily due to the body’s low production of collagen."
    http://www.wisegeek.com/what-is-brittle-bone-...

    "Bei der Osteogenesis imperfecta, im Volksmund auch Glasknochenkrankheit genannt, handelt es sich um einen Knochendefekt, der durch eine fehlerhafte Produktion des Bindegewebseiweißes Kollagen verursacht wird. Vier verschiedene Erkrankungstypen, die auf unterschiedliche genetische Defekte zurückgeführt werden können, werden unterschieden."
    http://www.aok.de/bund/tools/medicity/diagnos...

    "Glasknochenkrankheit (engl. brittle bone disease)
    Bei der Glasknochenkrankheit - medizinisch ausgedrückt Osteogenesis imperfecta – handelt es sich um eine erblich bedingte Bindegewebserkrankung, die zu vermehrter Knochenbrüchigkeit führt. Aufgrund von Mutationen kommt es zu Defekten in der Biosynthese von Typ-I-Kollagen. Das Kollagen stellt im Knochen das Hauptprotein dar und verleiht dem Knochen seine Zugfestigkeit. Die Glasknochenkrankheit tritt bei 4 – 7 von 100.000 Neugeborenen auf."
    http://www.medhost.de/gesundheit-lexikon/glas...
    #5AuthorMarianne (BE) (237471) 24 Feb 07, 09:52
    Context/ examples
    Osteogenesis imperfecta (OI) is a disease that causes weak bones that break easily. It is known as brittle bone disease.
    National Institute of Arthritis and Musculoskeletal and Skin Diseases http://www.niams.nih.gov/bone/hi/osteogenesis...

    Second Gene Discovered for Recessive Form of Brittle Bone Disease: Researchers at the National Institutes of Health and other institutions have found a second genetic defect that accounts for previously unexplained forms of osteogenesis imperfecta (OI), a disorder that weakens bones, sometimes results in frequent fractures and is sometimes fatal.
    National Institutes of Health http://www.nih.gov/news/pr/feb2007/nichd-08.htm

    Osteogenesis imperfecta f: engl. brittle bone disease; sog. Glasknochenkrankheit; erbl. Bindegewebserkrankung, die zu vermehrter Knochenbrüchigkeit führt ...
    Pschyrembel Klinisches Wörterbuch 259. Aufl. 2002

    Glasknochenkrankheit, die →Osteogenesis imperfecta.
    Osteogenesis imperfecta die, Glasknochenkrankheit, genetisch bedingte Entwicklungsstörung der Knochen infolge einer mangelhaften Bildung von Knochenbälkchen ...
    Der Brockhaus: in 15 Bänden. Permanent aktualisierte Online-Auflage http://www.brockhaus.de/brockhaus-suche/werke...

    Die Osteogenesis imperfecta wird als Glasknochenkrankheit bezeichnet, weil die Knochen "wie Glas" brechen. Es handelt sich dabei um eine seltene erbliche Störung des Bindegewebes, die unterschiedliche Schweregrade aufweisen kann.
    ZDF http://www.zdf.de/ZDFde/inhalt/15/0,1872,2047...
    Comment
    Unterstützung für
    osteogenesis imperfecta {abbr. OI} [med.] - die Osteogenesis imperfecta
    brittle bone disease [med.] - die Glasknochenkrankheit {wiss. Osteogenesis imperfecta}
    mit zusätzlichen Belegen.
    #6Authorgygis (236257) 24 Feb 07, 11:29
     
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