CERVICAL-SPINE IN PFEIFFERS-SYNDROME

Studies of cervical spine anomalies in patients with Crouzon's and Ape rt's syndromes have shown an increased incidence of fusions in compari son with that in the normal population. Currently, only small series o f patients with Pfeiffer's syndrome who exhibit abnormalities have bee n 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 confirm ed diagnosis of Pfeiffer's syndrome treated at Great Ormond Street Hos pital during the last 10 years were studied. All of the radiographs we re reviewed by the craniofacial team along with a pediatric radiologis t with experience in the assessment of skeletal dysplasias. Radiologic al abnormalities included hypoplasia of the neural arches, hemivertebr ae, 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 lev els within the cervical spine. Block fusions involving multiple verteb rae were noted. Analysis of sequential radiographs in 11 patients reve aled evidence of progression in eight patients. These results reveal a n incidence of anomalies that is higher than previously reported. The older age of the patients in our study demonstrates the progressive na ture of the cervical fusions in Pfeiffer's syndrome.