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Rare Case

Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Jan 11, 2014.

  1. Maher Mufid El-Khalidi

    Maher Mufid El-Khalidi Bronze Member

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    Fibrous dysplasia (FD) is a rare skeletal developmental disorder whereby the medulla of bone is replaced by fibrous tissue leading to distortion of bony architecture, expansion and weakening of bones, easy fractures, joint subluxations or dislocations and compressive symptoms . Four varieties of FD are recognized; the monostotic form (single bone involvement), polyostotic form (PFD) [multiple bones are affected], craniofacial form (multiple craniofacial bones are affected) or a cherubic form (maxilla and mandible alone are affected). PFD has a predilection for the long bones, ribs, spine and craniofacial bones. It is sometimes associated with the McCune Albright syndrome where café au lait spots and endocrinopathies (particularly precocious puberty) coexist. Rarely, other endocrine dysfunction such as hyperthyroidism, growth hormone excess, Cushing syndrome or primary hyperparathyroidism can also be associated with PFD. Although FD is linked to an activating mutation in the gene that encodes the subunit of stimulatory G protein (Gs) located at 20q13.2–13.3, it is a non-heritable congenital developmental disorder.
    Fibrous dysplasia predisposes the spine to atlanto-axial instability , odontoid fractures , compression fractures, spinal cord compression via expansile lesions sarcomatous transformation or scoliosis . Although PFD can produce spinal canal stenosis with consequent pathological implications, cervical cord contusions have never been reported before with this disorder.
    I would like to report a case of PFD affecting the entire spine, producing cervical canal stenosis and post traumatic cervical cord contusion. This report is also noteworthy for its dramatic depiction of leontiasis ossea, a peculiar facial deformity sometimes associated with PFD. Refernce is.-http://link.springer.com/article/10.1186/1746-160X-2-24/fulltext.html#Fig1_38
     

  2. Err

    Err Young Member

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  3. Carol Maciel

    Carol Maciel Active member

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    Displasia Craniometafisária
     

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    mohammed ashour Active member

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    diana91diana Well-Known Member

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    baghira1981 Active member

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    baghira1981 Active member

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    srilatha Well-Known Member

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  11. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

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