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Upper cervical ossicles in Down syndrome.

H G French, S W Burke, J M Roberts

    Journal of Pediatric Orthopedics
    |January 1, 1987
    PubMed
    Summary
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    Six patients with Down syndrome had upper cervical spine ossicles, possibly due to avulsion fractures. Researchers recommend limiting high-risk activities for individuals with Down syndrome to prevent such injuries.

    Area of Science:

    • Orthopedics
    • Genetics
    • Radiology

    Background:

    • Down syndrome is associated with various skeletal abnormalities.
    • Upper cervical spine anomalies can occur in individuals with Down syndrome.
    • Ossicles in the upper cervical spine require accurate diagnosis to guide management.

    Purpose of the Study:

    • To describe upper cervical spine ossicles in patients with Down syndrome.
    • To differentiate these ossicles from other known spinal conditions.
    • To provide recommendations for activity restrictions.

    Main Methods:

    • Retrospective review of six patients with Down syndrome and upper cervical spine ossicles.
    • Analysis of radiographic anatomy, including serial radiographs.
    • Comparison with descriptions of occipital vertebrae, ossiculum terminale, and os odontoideum.

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    Main Results:

    • Six cases identified from a cohort of 184 patients with Down syndrome.
    • Average age at diagnosis was 20.6 years.
    • Radiographic findings suggest an avulsion of the upper dens, distinct from previously described entities.

    Conclusions:

    • The described upper cervical spine ossicles in Down syndrome likely represent dens avulsion injuries.
    • Restriction of high-risk activities is advised for all individuals with Down syndrome.
    • Further research may clarify the exact pathophysiology and long-term implications.