A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly


Bilguvar K., Bydon M., BAYRAKLI F. , Ercan-Sencicek A. G. , BAYRİ Y. , Mason C., ...More

JOURNAL OF NEUROSURGERY, vol.107, no.6, pp.495-499, 2007 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 107 Issue: 6
  • Publication Date: 2007
  • Doi Number: 10.3171/ped-07/12/495
  • Title of Journal : JOURNAL OF NEUROSURGERY
  • Page Numbers: pp.495-499

Abstract

Object. Greig cephalopolysyndactyly syndrome (GCPS) is one of a spectrum of overlapping clinical syndromes resulting from mutations in the gene GLI3 on chromosome 7p. Cerebral cavernous malformation (CCM) is caused by mutations in three distinct genes, including Malcavernin (CCM2), which also maps to chromosome 7p and is located 2.8 Mbp from GLI3. The authors describe a new syndrome that combines the vascular lesions characteristic of CCM with the hallmarks of GCPS, including polydactyly, hypertelorism, and developmental delay.