PhD defence L. (Linda) Gaillard

Below is a brief summary about the dissertation:

Craniosynostosis is a rare congenital anomaly defined by premature fusion of one or more cranial sutures leading to a deformed skull shape. Craniosynostosis can have a wide range of adverse effects throughout the course of life. Our understanding of the development of the cranial vault and premature suture fusion has improved over the last decades, but many factors involved in the pathophysiology of craniosynostosis remain unknown. Therefore, the general aim of this thesis was to gain further insight into the pathophysiology and long-term consequences of craniosynostosis, for which we focused on three main objectives: 1) To investigate the genetic diagnostics yield in craniosynostosis; 2) to obtain further insight into the pathophysiology of metopic synostosis and associated disorders; 3) to establish methods for uniform assessments of phenotypical severity and aesthetic outcome for metopic and sagittal synostosis across Europe to facilitate cross-center comparison of treatment outcome in the future. The studies presented in this thesis were conducted in (subsets of) a large clinical cohort of patients with craniosynostosis in the Erasmus Medical Center, Rotterdam, the Netherlands and in a collaboration with European reference network (ERN) CRANIO.