Cervical spine in Pfeiffer's syndrome

Studies of cervical spine anomalies in patients with Crouzon's and Apert's syndromes have shown an increased incidence of fusions in comparison with that in the normal population. Currently, only small series of patients with Pfeiffer's syndrome who exhibit abnormalities have been published. The objective was to assess the incidence and pattern of radiological cervical spine abnormalities in patients with Pfeiffer's syndrome. All cervical spine radiographs of 22 patients with a confirmed diagnosis of Pfeiffer's syndrome treated at Great Ormond Street Hospital during the last 10 years were studied. All of the radiographs were reviewed by the craniofacial team along with a pediatric radiologist with experience in the assessment of skeletal dysplasias. Radiological abnormalities included hypoplasia of the neural arches, hemivertebrae, and a ''butterfly'' vertebra as well as vertebral fusion. Evidence of vertebral fusion was present in 16 (73%) of cases. Fusion of both the vertebral bodies and the posterior elements were noted. C2-C3 was the level most commonly involved, although fusion was noted at all levels within the cervical spine. Block fusions involving multiple vertebrae were noted. Analysis of sequential radiographs in 11 patients revealed evidence of progression in eight patients. These results reveal an incidence of anomalies that is higher than previously reported. The older age of the patients in our study demonstrates the progressive nature of the cervical fusions in Pfeiffer's syndrome.