OBJECTIVEAtlantoaxial instability is an important cause of pain and neurological dysfunction in patients with Down syndrome (DS), frequently requiring instrumented fusion of the upper cervical spine. This study provides a quantitative analysis of C2 morphology in DS patients compared with their peers without DS to identify differences that must be considered for the safe placement of instrumentation.METHODSA retrospective chart review identified age-matched patients with and without DS with a CT scan of the cervical spine. Three-dimensional reconstructions of these scans were made with images along the axis of, and perpendicular to, the pars, lamina, facet, and transverse foramen of C2 bilaterally. Two of the authors performed independent measurements of anatomical structures using these images, and the average of the 2 raters' measurements was recorded. Pedicle height and width; pars axis length (the distance from the facet to the anterior vertebral body through the pars); pars rostrocaudal angle (angle of the pars axis length to the endplate of C2); pars axial angle (angle of the pars axis length to the median coronal plane); lamina height, length, and width; lamina angle (angle of the lamina length to the median coronal plane); and transverse foramen posterior distance (the distance from the posterior wall of the transverse foramen to the tangent of the posterior vertebral body) were measured bilaterally. Patients with and without DS were compared using a mixed-effects model accounting for patient height.RESULTSA total of 18 patients with and 20 patients without DS were included in the analysis. The groups were matched based on age and sex. The median height was 147 cm (IQR 142-160 cm) in the DS group and 165 cm (IQR 161-172 cm) in the non-DS group (p < 0.001). After accounting for variations in height, the mean pars rostrocaudal angle was greater (50.86° vs 45.54°, p = 0.004), the mean transverse foramen posterior distance was less (-1.5 mm vs +1.3 mm, p = 0.001), and the mean lamina width was less (6.2 mm vs 7.7 mm, p = 0.038) in patients with DS.CONCLUSIONSPatients with DS had a steeper rostrocaudal trajectory of the pars, a more posteriorly positioned transverse foramen posterior wall, and a narrower lamina compared with age- and sex-matched peers. These variations should be considered during surgical planning, as they may have implications to safe placement of instrumentation.
Keywords: DS = Down syndrome; Down syndrome; ES = effect size; anatomic variation; axis morphology; congenital; spine; x-ray computed tomography.