Skull Base and Cervical Spine Involvement in Jansen Syndrome: Case Report.

Skull Base and Cervical Spine Involvement in Jansen Syndrome: Case Report.

Pediatr Neurosurg. 2017 Feb 22;52(2):

Authors: Khan R, Oakes P, Fisahn C, Burgess B, Kirkpatrick KM, Oskouian RJ, Tubbs RS, Blount JP

Abstract
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.

PMID: 28241124 [PubMed - as supplied by publisher]

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