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Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation
1Department of Genetics, Children's Hospital, Camperdown, NSW, Australia.
Pediatric Radiology
|January 1, 1994
Summary
Basilar impression (BI) is common in osteogenesis imperfecta (OI), especially type IV B. Neurologic symptoms are more frequent in patients with BI and OI type IV, warranting screening.
Area of Science:
- Orthopedics
- Neurology
- Radiology
Background:
- Basilar impression (BI) is a craniovertebral junction abnormality.
- Osteogenesis imperfecta (OI) is a genetic disorder affecting connective tissue, primarily bone.
- BI is a known complication in patients with OI.
Purpose of the Study:
- To determine the frequency of basilar impression in patients with osteogenesis imperfecta.
- To identify specific OI types associated with a higher prevalence of BI.
- To correlate BI with neurological signs in OI patients.
Main Methods:
- Review of plain lateral skull radiographs and CT sagittal reconstructions of the craniocervical junction.
- Assessment of BI in a cohort of patients with osteogenesis imperfecta.
- Correlation of BI findings with OI type and presence of neurological deficits.
Main Results:
- Basilar impression was found in 25% of subjects with osteogenesis imperfecta.
- BI occurred most frequently in patients with OI type IV B.
- Neurologic signs of posterior fossa compression were predominantly observed in subjects with BI and OI type IV.
Conclusions:
- Basilar impression is a common finding in osteogenesis imperfecta, particularly OI type IV B.
- Screening for BI is recommended in all OI patients, with increased vigilance for OI type IV B.
- The presence of BI in OI type IV may be associated with significant neurological complications.