C

 

Craniosynostosis (kraniyosinostozis) kümesi

Craniosynostosis (kraniyosinostozis): kafatası suturalarının “erken kapanması”

7 fenotip

Etyolojisi ve genetik patofizyolojisi açısından oldukça çeşitlilik gösterir

Olguların büyük bölümünde tek bulgu olarak saptanır

Kimi ailelerde kalıtsal nitelik gösterebilir - AD

Onlarca sendromda saptanan bulgulardan biridir

Kraniyosinostozis içeren çoğu sendromda saptanan 4 temel bulgu:

  1. Kraniyosinostozis (coronal-sagittal-lambdoid suturalar)

  2. Maksilla hipoplazisi (mikrognati)

  3. Aşırı sığ orbitalar

  4. Proptozis ve ekzoftalmi

 

  • Bellus GA, Gaudenz K, Zackai EH, et al. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant Craniosynostosis syndromes. Nature Genetics, 14:174–176, 1996

  • Cohen MM Jr, MacLean RE. Craniosynostosis: Diagosis, Evaluation, and Management. Oxford University Press, NY, 2000

  • Kress W, Collmann H, Busse M, et al. Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenetics & Cell Genetics,  91:134–137, 2000

  • Akai T, Yamamoto K, Iizuka H, et al. Syndromic Craniosynostosis Craniosynostosis with elbow joint contracture. Pediatric Neurosurgery, 42:108–112, 2006

  • Anderson PJ, Netherway DJ, Cox TC, et al. Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome? Journal of Craniofacial Surgery, 17:166–172, 2006

  • Fitzpatrick, D. R. Filling in the gaps in cranial suture biology. Nature Genetics, 45: 231-232, 2013