Skull Base and Cervical Spine Involvement in Jansen Syndrome: Case Report
Rabia Khan1, Peter Oakes, Christian Fisahn
1Seattle Science Foundation, Seattle, WA, USA.
Introduction:
Metaphyseal chondrodysplasia, Jansen type (JMD), is a rare form of endochondral ossification resulting in short limbs and dwarfism.
Case Report:
A child presented with JMD and was found to have involvement of the cervical spine. Conservative treatment was given to the patient who at the long-term follow-up continues to have no neurological findings or cervical spine instability.
Conclusions:
To our knowledge, this case represents the first report of involvement of the superior cervical spine in a patient with JMD. Clinicians should be aware of this potential albeit rare finding.
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