Türk Nöroşirürji Dergisi 2017 , Vol 27 , Num 3
Molecular Genetics in Craniosynostosis
1Acıbadem Üniversitesi, Tıp Fakültesi, Beyin ve Sinir Cerrahisi Anabilim Dalı, Pediatrik Nöroşirürji Bölümü, Acıbadem Altunizade Hastanesi, İstanbul, Türkiye The molecular genetics of craniosynostosis has become an important topic in the last 20 years. Detailed genetic mechanisms related to the development and early closure of calvarial sutures have been described. Many genetic pathways have been reported to play a role in this process. There are 60 gene mutations that have been proven to cause these pathologies in syndromic and nonsyndromic craniosynostosis. The treatment for craniosynostosis is surgery at present. The main aim is not to solve the cosmetic problems but to decrease intracranial pressure and it has been shown that neuromotor development is less affected afterwards. The mortality rate of such surgery is 1.5-2%. New therapeutic methods will help manage these gene mutations and decrease surgical morbidity. The problem of postoperative reclosure of calvarial sutures will hopefully be solved in the near future. Anahtar Kelimeler : Craniosynostosis, Molecular genetics, Suture closure, MSX2