颅骨基底和颈椎受累于詹森综合征：病例报告。
Skull Base and Cervical Spine Involvement in Jansen Syndrome: Case Report.
作者信息
Khan Rabia, Oakes Peter, Fisahn Christian, Burgess Brittni, Kirkpatrick Kristina M, Oskouian Rod J, Tubbs R Shane, Blount Jeffrey P
机构信息
Seattle Science Foundation, Seattle, WA, USA.
出版信息
Pediatr Neurosurg. 2017;52(2):140-143. doi: 10.1159/000455924. Epub 2017 Feb 22.
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.
引言
詹森型干骺端软骨发育不良（JMD）是一种罕见的软骨内成骨形式，可导致四肢短小和侏儒症。
病例报告
一名患有JMD的儿童被发现颈椎受累。对该患者进行了保守治疗，在长期随访中，患者未出现神经学症状或颈椎不稳定。
结论
据我们所知，该病例是首例关于JMD患者上颈椎受累的报告。临床医生应意识到这一潜在的罕见发现。
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