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    Go to the top of the page   ID: 20050222105123 Original case in english  More links about this topic on Pubmed (PubMed Reader)
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    | The Authors | Discussion | Write a Comment to this Case |
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    | Citation | Similar Cases | Similar Cases in the Internet | Images to this Case |
     
    Osteogenesis imperfecta - brittle bone disease
    K Glutig, G Hahn. Osteogenesis imperfecta - brittle bone disease. PedRad [serial online] vol 5, no. 2.
    URL: www.PedRad.info/?search=20050222105123


     
     Pediatric Radiology CasesImages to this case: There are X-Ray-images available for this case. [ X-Ray ] View all modalities [ All ]   
     Pediatric Radiology CasesAuthor/s:

    K. Glutig, G. Hahn (Institut fŘr diagnostische Radiologie Abteilung Kinderradiologie Uniklinikum Dresden/Dresden/Deutschland)  

     
     Pediatric Radiology CasesEmail Address:

    Viewable for logged on visitors (Log on)  

     
     Pediatric Radiology CasesAge:

    0 Newborn  

     
     Pediatric Radiology CasesGender:

    Female  

     
     Pediatric Radiology CasesRegion-Organ:

    Generalized diseases  

     
     Pediatric Radiology CasesMost likely etiology:

    congenital  

     
     Pediatric Radiology CasesHistory:

    Mature female infant, 3200 g., 49 cm, Sectio,
    short extremities, especially Femur bilateral,
    round Thorax, blue Sklera
     

     
     Pediatric Radiology CasesPathomorphology or Pathophysiology of this disease :

    generalised connective tissue disorder,
    Collagen metabolic disorder of collagen type I: (Bone collagen)
    Manifestation in the bony skeleton

    insufficient production of spongiosa: multiple micro fractures,
    Diminished bone neoformation,
    sekundary reactive fibrosis and excessive callus formation  

     
     Pediatric Radiology CasesRadiological findings:


    X-Ray 1 <- view X-Ray 1

    X-Ray 1: Thorax-Abdomen in lying position:

    Narrow rip pairs without evidence of previous fractures.

    Unremarkable Clavicles. Normal vertebral bodies without evidence of a significant flattening.





    X-Ray 2 <- view X-Ray 2

    X-Ray 2: Left arm in one plane:

    Evidence of subtle metaphysary step formation of the distal Ulna and the distal Radius. Along the diaphyses and Humerus no evidence of a fracture.






    X-Ray 3 <- view X-Ray 3

    X-Ray 3: Right arm in one plane:

    Evidence of subtle metaphysary step formation of the distal Ulna and the distal Radius. Along the diaphyses and Humerus no evidence of a fracture.





    X-Ray 4 <- view X-Ray 4

    X-Ray 4: Right leg ap:

    Clear bowing of the right femur and extensive Callus formation.

    Status post at least two intrauterin happened fractures with secondary shortening of the Femur. Delicate distalwards narrowing and bowed Fibula and Tibia.





    X-Ray 5 <- view X-Ray 5

    X-Ray 5: Right leg lateral:

    Clear bowing of the right femur and extensive Callus formation.

    Status post at least two intrauterin happened fractures with secondary shortening of the Femur. Delicate distalwards narrowing and bowed Fibula and Tibia.





    X-Ray 6 <- view X-Ray 6

    X-Ray 6: Left lower leg ap:

    Clear bowed deformation of the femur with fresh fracture in the middle diaphysis with clear dislocation. Tibia and Fibula of the left leg also extensively deformed.





    X-Ray 7 <- view X-Ray 7

    X-Ray 7: Head ap:

    Hypertransparent vault of the cranium especially parietal.





    X-Ray 8 <- view X-Ray 8

    X-Ray 8: Head lateral:

    Hypertransparent vault of the cranium especially parietal.


     

     
     Pediatric Radiology CasesDiagnosis confirmation:

    Total constellation (Consens)  

     
     Pediatric Radiology CasesWhich DD would be also possible with the radiological findings:

    N/A  

     
     Pediatric Radiology CasesCourse / Prognosis / Frequency / Other :

    Therapy: Bisphosphonates
    Symptomatic: Orthopedic-supportive devices
    No physical strain


    Prognosis variable from type.
    Four types:
    Type II a, b, c, d and Typ III: at birth manifest and prognostic unfavorable.
    Type I und IV: better prognosis with decline of frequency of fractures after puberty.

    Frequency dependent of type: 1,6 or 21,8 per 100000 children,
    ca. 5500 afflicted people in Germany  

     
     Pediatric Radiology CasesComments of the author about the case:

    N/A  

     
     Pediatric Radiology CasesFirst description / History:

    N/A  

     
     Pediatric Radiology CasesLiterature:

    1. Medline: Medline
    Rauch F, Glorieux FH
    Osteogenesis imperfecta
    Lancet. 2004 Apr 24 ;363(9418) :1377-85  

     
     Pediatric Radiology CasesKeywords:

    Osteogenesis imperfecta, brittle bones, dysplasia, brittle bone disease, generalised connective tissue disorder, collagen metabolic disorder, collagen type I, child, childhood, pediatric radiology  

     
     Pediatric Radiology Cases Cite this article:

    K Glutig, G Hahn. Osteogenesis imperfecta - brittle bone disease. PedRad [serial online] vol 5, no. 2.
    URL: www.PedRad.info/?search=20050222105123  

     
     Pediatric Radiology Cases Read similar articles: with corresponding keywords
    in the same field: Generalized diseases
    or in the region: Generalized diseases
    or in the tissue/organ:
    or with the etiology: congenital
     
     Pediatric Radiology CasesImages to this case: There are X-Ray-images available for this case. [ X-Ray ] View all modalities [ All ]   
     
    Osteogenesis imperfecta - brittle bone disease
    K Glutig, G Hahn. Osteogenesis imperfecta - brittle bone disease. PedRad [serial online] vol 5, no. 2.
    URL: www.PedRad.info/?search=20050222105123


     

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    Osteogenesis imperfecta - brittle bone disease
    Other cases by these authors:

    Search K. Glutig in Medline K. Glutig (1)   
    Search G. Hahn in Medline G. Hahn (22)   

    Osteogenesis imperfecta - brittle bone disease  
     
    Osteogenesis imperfecta - brittle bone disease
    K Glutig, G Hahn. Osteogenesis imperfecta - brittle bone disease. PedRad [serial online] vol 5, no. 2.
    URL: www.PedRad.info/?search=20050222105123


     

    Which diagnosis have other collegues guessed?


    • Achondroplasia
      Votes: 0 (0 %)


    • Hypochondroplasia
      Votes: 0 (0 %)


    • Osteogenesis imperfecta
      Votes: 17 (100 %)


    • Diastrophic Dysplasia
      Votes: 0 (0 %)



        Total answers: 17

     
    Osteogenesis imperfecta - brittle bone disease
    K Glutig, G Hahn. Osteogenesis imperfecta - brittle bone disease. PedRad [serial online] vol 5, no. 2.
    URL: www.PedRad.info/?search=20050222105123


     

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    Osteogenesis imperfecta - brittle bone disease
    K Glutig, G Hahn. Osteogenesis imperfecta - brittle bone disease. PedRad [serial online] vol 5, no. 2.
    URL: www.PedRad.info/?search=20050222105123


     




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