Twenty patients with a diagnosis of Saethre-Chotzen syndrome had their
cervical spine radiographs reviewed. Radiologic abnormalities includi
ng vertebral fusion were present in 9 of the 20 patients. Fusion of bo
th the vertebral bodies and the posterior elements was noted, although
the latter site was more common. C2-3 was the level most commonly inv
olved, although other levels were recorded. Analysis of sequential rad
iographs in nine patients revealed evidence of progression in seven pa
tients. In those studies in children aged under 2 years, only 1 of 18
films showed evidence of fusion, while in those over 2 years of age, 1
0 of 12 showed evidence of fusion. These results reveal that the incid
ence of cervical anomalies in Saethre-Chotzen syndrome is greater than
that in the general population. There is both direct and indirect evi
dence that the vertebral fusions are progressive during childhood.