Pediatric Radiology

, Volume 24, Issue 6, pp 427–430 | Cite as

Craniocervical abnormalities in osteogenesis imperfecta: Genetic and molecular correlation

  • D. O. Sillence
Bone Dysplasia Symposium


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.


Public Health Computerize Tomography Posterior Fossa Common Finding Osteogenesis Imperfecta 
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  1. 1.
    O'Connell JEA, Turner JWA (1950) Basilar impression of the skull. Brain 73: 405–426PubMedGoogle Scholar
  2. 2.
    Hurwitz LJ, McSwiney RR (1960) Basilar impression and osteogenesis imperfecta in a family. Brain 83: 138–149PubMedGoogle Scholar
  3. 3.
    Dirheimer Y, Babin E (1971) Basilar impression and hereditary fragility of the bones. Neuroradiology 3: 41–43PubMedGoogle Scholar
  4. 4.
    Frank E, Berger T, Tew JM (1982) Basilar impression in osteogenesis imperfecta tarda. Surg Neurol 17: 116–119PubMedGoogle Scholar
  5. 5.
    Pozo JL, Crockard HA, Ransford AO (1984) Basilar impression in osteogenesis imperfecta. J Bone Joint Surg [Br] 66: 233Google Scholar
  6. 6.
    Pauli RM, Gilbert EF (1986) Upper cervical cord compression as cause of death in osteogenesis imperfecta type II. J Pediatr 108: 579–581PubMedGoogle Scholar
  7. 7.
    Rush PJ, Berbrayer D, Reilly BJ (1989) Basilar impression and osteogenesis imperfecta in a three-year-old girl: CT and MRI. Pediatr Radiol 19: 142–143PubMedGoogle Scholar
  8. 8.
    Hunt TE, Dekaban AS (1982) Modified head-neck support for basilar invagination with brain-stem compression. CMA J 126: 947–948Google Scholar
  9. 9.
    Harkey HL, Crockard A, Stevens JM, Smith R, Ransford AO (1990) Operative management of basilar impression in osteogenesis imperfecta. Neurosurgery 27: 782–786PubMedGoogle Scholar
  10. 10.
    Sillence DO (1988) Osteogenesis imperfecta — nosology and genetics. Ann NY Acad Sci 543: 1–15PubMedGoogle Scholar
  11. 11.
    Taylor AR, Charkrovorti MS (1964) Clinical syndromes associated with basilar impression. Arch Neurol 10: 475–484PubMedGoogle Scholar
  12. 12.
    McGregor M (1948) Significance of certain measurements of skull in the diagnosis of basilar impression. Br J Radiol 21: 171–181Google Scholar
  13. 13.
    Chamberlain WE (1939) Basilar impression (platybasia): bizarre developmental anomaly of occipital bone and upper cervical spine with striking and misleading neurologic manifestations. Yale J Biol Med 11: 487–496Google Scholar
  14. 14.
    Bull JWD, Nixon WLB, Pratt RTC (1955) Radiologic criteria and familial occurrence of primary basilar impression. Brain 78: 229–247PubMedGoogle Scholar
  15. 15.
    Tsipouras P, Barabas G, Matthwes WS (1986) Neurologic correlates of osteogenesis imperfecta. Arch Neurol 43: 150–152PubMedGoogle Scholar
  16. 16.
    Byers PH, Wallis GA, Willing MC (1991) Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 28: 433–442PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • D. O. Sillence
    • 1
  1. 1.Department of GeneticsThe Children's HospitalCamperdownAustralia

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