MALFORMATIONS OF CENTRAL NERVOUS SYSTEM: GENERAL ISSUES
- Authors: Piro, E.; Alongi, A.; Domianello, D.; Sanfilippo, C.; Serra, G.; Pipitone, L.; Ballacchino, A.; Provenzano, S.; Schierz, I.; Corsello, G.
- Publication year: 2013
- Type: Articolo in rivista (Articolo in rivista)
- Key words: CNS, malformations, genetic investigations, developmental delay.
- OA Link: http://hdl.handle.net/10447/97955
Malformations of the central nervous system (CNS) encompass a heterogeneous group of congenital anomalies that may be isolated or appear as part of a genetic syndrome. Advances in identifying the genetic etiology underlying many CNS malformation and syndromes have led to the current genetic-based classifications that allows us to better estimate prognosis and potential complications. Herein, we discuss the main genetic, clinical and radiological features and their implications for diagnostic testing and disease management