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Updated: May 16, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Successful cranio-cervical fusion in a patient with Down syndrome
C S Johnson1, D N Wilson, R J Mobbs
1Prince of Wales Hospital, Barker Street, Randwick, Sydney, New South Wales, Australia. cjoh65796@gmp.usyd.edu.au
Abstract:
We present a patient with Down syndrome with neck pain and severe cervical myelopathy. Imaging revealed occipito-atlantal and atlanto-axial instability with severe spinal cord compression. There are no standardized radiological or clinical guidelines to aid in managing this unique subset of patients. We demonstrate a successful occiput-C3 internal fixation and fusion without complication. Due to the largely unknown natural history and ongoing management difficulties in this population, we demonstrate a case that may aid future decision making for this specialized field. We also discuss an approach to reduce this deformity, which, to our knowledge, has not been published before.