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
Piro, E., Alongi, A., Domianello, D., Sanfilippo, C., Serra, G., Pipitone, L., et al. (2013). MALFORMATIONS OF CENTRAL NERVOUS SYSTEM: GENERAL ISSUES. ACTA MEDICA MEDITERRANEA, 29(4), 735-740.
MALFORMATIONS OF CENTRAL NERVOUS SYSTEM: GENERAL ISSUES
PIRO, Ettore;Serra,G;CORSELLO, Giovanni
2013-01-01
Abstract
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
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