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Medicine Xray

Discussion in 'Spot Diagnosis' started by Roholamin, Jan 26, 2013.

  1. Roholamin

    Roholamin Active member

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    What is your medical diagnosis ?

    diagnosis.jpg

    Patient Data:
    Age: 50
    Gender: Female
     

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  2. kangourou

    kangourou Famous Member

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    cleidocranial dysostosis - this chest x-ray demonstrates the absence of clavicles.
     

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  3. Roholamin

    Roholamin Active member

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    Case Discussion...

    Presentation:
    CXR taken for left sided chest pain.

    Case Discussion:
    Virtually absent clavicles in a patient with cleidocranial dysostosis. No cause for left sided chest pain is seen.
    Cleidocranial dysostosis (CCD) is a skeletal dysplasia with predominant membranous bone involvement. It carries an autosomal dominant inheritance.

    Pathology:
    It is characterised by incomplete ossification of sketeal structures inclusive of the clavicle as well as defective development of the pubic bones, vertebral column, and long bones.

    Clinical features:
    • large head, with large fontenelles with delayed closure
    • broad mandible
    • supernumerary teeth
    • high arched palate
    • neonatal distress due to thorax being narrowed and bell shaped
    • excessively mobile shoulders
    • may have genu valgum and short fingers

    Radiographic features:
    Plain film

    Skull
    • wormian bones
    • widened sutures / fontanelles
    • premature fusion of the coronal suture (brachycephaly)
    • frontal / parietal bossing
    • basilar invagination (atlanto axial impaction)
    • persistent metopic suture

    Chest
    • hypoplasia / aplasia of lateral clavicle (absent clavicles) : may have two separate hypoplastic segments
    • supranumerary ribs
    • hemivertebrae with spondylosis
    • small and high scapulae

    Pelvis
    • hypoplasia of iliac bones
    • absent / delayed ossification of the pubic bone (pseudo widening of the symphysis pubis)

    Limbs
    • short / absent fibula
    • short / absent radius
    • coxa vara
    • hypoplasic terminal phalanges
     

    Last edited: Jan 27, 2013

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