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Cervical spine in Pfeiffer's syndrome
P J Anderson1, C M Hall, R D Evans
1Department of Craniofacial Surgery, Great Ormond Street Hospital for Children, London, United Kingdom.
The Journal of Craniofacial Surgery
|July 1, 1996
Summary
Pfeiffer syndrome often involves cervical spine fusion, with 73% of patients showing abnormalities. These vertebral fusions can progress with age, impacting the cervical spine.
Area of Science:
- Medical Imaging
- Orthopedics
- Genetics
Background:
- Cervical spine anomalies are noted in Crouzon's and Apert's syndromes.
- Limited data exists on cervical spine abnormalities in Pfeiffer syndrome.
Purpose of the Study:
- To determine the incidence and patterns of radiological cervical spine abnormalities in Pfeiffer syndrome patients.
- To analyze the progression of these abnormalities.
Main Methods:
- Retrospective review of cervical spine radiographs from 22 Pfeiffer syndrome patients.
- Radiographs analyzed by a craniofacial team and a pediatric radiologist specializing in skeletal dysplasias.
Main Results:
- Vertebral fusion observed in 73% of patients (16 out of 22).
- Common abnormalities included neural arch hypoplasia, hemivertebrae, butterfly vertebrae, and vertebral fusion.
- C2-C3 level most frequently affected; block fusions involving multiple vertebrae were noted.
- Progressive fusion was evident in 8 of 11 patients with sequential radiographs.
Conclusions:
- Pfeiffer syndrome exhibits a higher incidence of cervical spine anomalies than previously reported.
- Cervical fusions in Pfeiffer syndrome appear to be progressive, particularly evident in older patients.