A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly

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

JOURNAL OF NEUROSURGERY, cilt.107, sa.6, ss.495-499, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 107 Sayı: 6
  • Basım Tarihi: 2007
  • Doi Numarası: 10.3171/ped-07/12/495
  • Dergi Adı: JOURNAL OF NEUROSURGERY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.495-499
  • Anahtar Kelimeler: cerebral cavernous malformation, Greig cephalopolysyndactyly, pediatric neurosurgery, COPY NUMBER, MUTATIONS, GENE, ELEMENTS
  • Marmara Üniversitesi Adresli: Hayır

Özet

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.