Craniocervical abnormalities in osteogenesis imperfecta: Genetic and molecular correlation
Author:
- 1 November 1994
- journal article
- review article
- Published by Springer Nature in Pediatric Radiology
- Vol. 24 (6) , 427-430
Abstract
Basilar impression (BI) assessed by either plain lateral skull radiograph or computerized tomography (CT) sagittal reconstruction of the craniocervical junction is a common finding occurring in 25% of subjects with osteogenesis imperfecta (OI). It appears to occur with highest frequency in a group of subjects with OI type IVB, i.e. patients with mild/moderate liability to fractures, normal sclerae but dentinogenesis imperfecta. Neurologic signs indicating compression of posterior fossa structures occur predominantly in subjects with BI and OI type IV. Screening is recommended for all patients with OI but particularly OI type IVB.Keywords
This publication has 18 references indexed in Scilit:
- Osteogenesis imperfecta: translation of mutation to phenotype.Journal of Medical Genetics, 1991
- The operative management of basilar impression in osteogenesis imperfectaNeurosurgery, 1990
- The Operative Management of Basilar Impression in Osteogenesis ImperfectaNeurosurgery, 1990
- Osteogenesis Imperfecta Nosology and GeneticsAnnals of the New York Academy of Sciences, 1988
- Upper cervical cord compression as cause of death in osteogenesis imperfecta type IIThe Journal of Pediatrics, 1986
- Neurologic Correlates of Osteogenesis ImperfectaArchives of Neurology, 1986
- Basilar impression and platybasia in osteogenesis imperfecta tardaSurgical Neurology, 1982
- THE RADIOLOGICAL CRITERIA AND FAMILIAL OCCURRENCE OF PRIMARY BASILAR IMPRESSIONBrain, 1955
- BASILAR IMPRESSION OF THE SKULLBrain, 1950
- The Significance of Certain Measurements of the Skull in the Diagnosis of Basilar ImpressionBritish Journal of Radiology, 1948