Skip to main content
SpringerLink
Log in

Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome

  • Originals
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

Two brothers with typical clinical findings of the COFS-sundrome are described. In the cranial CT performed on the younger patient at the age of 2 years and 6 months, foci of intracranial calcification located symmetrically in the region of the lenticular nucleus and hemispheric white matter were noted. This finding is clearly distinguishable from the other known patterns of intracranial calcification and could be pathognomonic of the COFS-syndrome.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Lowry RB, MacLean R, McLean DM, Tischler B (1971) Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome. J Pediatr 79: 282

    PubMed  Google Scholar 

  2. Lurie IV, Chestvoy ED, Lazjuk GI, Nedzved MK, Usoev SS (1976) Further evidence for the autosomal recessive inheritance of the COFS-syndrome. Clin Genet 10: 343

    PubMed  Google Scholar 

  3. Pena SDJ, and Shokeir MHK (1974) Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. Clin Genet 5: 285

    PubMed  Google Scholar 

  4. Piussan Ch, Cuvelier B, Lenaerts C, Le Mareschal B, Réguet C, Risbourg B (1979) Le syndrome cérébro-oculo-facio-squelettique. Arch Franç Pédiat 36: 379

    Google Scholar 

  5. Preus M, Fraser FC (1974) The cerebro-oculo-facio-skeletal syndrome. Clin Genet 5: 294

    PubMed  Google Scholar 

  6. Preus M, Kaplan P (1977) Renal anomalies and oligohydramnios in the cerebro-oculo-facio-skeletal syndrome. Am J Dis Child 131: 62

    PubMed  Google Scholar 

  7. Schey WL (1974) Intracranial calcifications in childhood. Frequency of occurrence and significance. AJR 122: 495

    Google Scholar 

  8. Scotti LN, Bartoletti SC, Rosenbaum A, Ackerman MJ (1980) The value of CT in genetic counseling in tuberous sclerosis. Pediatr Radiol 9: 1

    PubMed  Google Scholar 

  9. Surana RB, Fraga JR, Sinkford SM (1978) The cerebro-oculo-facio-skeletal syndrome. Clin Genet 13: 486

    PubMed  Google Scholar 

  10. Willich E, Sellier W, Weigel W (1972) Die intrakraniellen Verkalkungen des Kindesalters. RÖFO 116: 735

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Tahkokangas Central Institution, University of Oulu, Oulu, Finland

    S. -L. Linna M.D.

  2. Department of Pediatrics, University of Oulu, Oulu, Finland

    K. Finni, S. Similä & K. Kouvalainen

  3. Department of Diagnostic Radiology, University of Oulu, Oulu, Finland

    J. Laitinen

Authors
  1. S. -L. Linna M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. K. Finni
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. S. Similä
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. K. Kouvalainen
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J. Laitinen
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Linna, S.L., Finni, K., Similä, S. et al. Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. Pediatr Radiol 12, 28–30 (1982). https://doi.org/10.1007/BF01221707

Download citation

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01221707

Key Words

Search

Navigation