Türk Nöroşirürji Dergisi 2017 , Vol 27 , Num 3
Clinical Genetics and Classification of Craniosynostosis
Özlem Naciye ŞAHİN1,Yasemin ALANAY2
1Acıbadem Üniversitesi, Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, İstanbul, Türkiye
2Acıbadem Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Çocuk Genetik Bilim Dalı, İstanbul, Türkiye
Craniosynostosis is defned as the premature fusion of one or more sutures. Single gene mutations and chromosomal abnormalities are responsible for 20% of the affected cases. Identifying the etiology is important for understanding the genetic basis of the disease and its management. All children with a craniofacial abnormality should be managed by an interdisciplinary team. Craniosynostosis is a chronic condition where follow-up and evaluations should also be made by a genetic counselor. With the rapid development of molecular diagnostic tools, cases with craniofacial anomalies now have the chance for genetic diagnosis. In depth molecular research will provide targeted therapies, improved outcomes and a better prognosis for these individuals in the future. The clinical genetic aspects and classifcation of craniosynostosis are reviewed in this article. Anahtar Kelimeler : Fontanelle, Genetics, Craniosynostosis