Disorders of Ventral Induction/Spectrum of Holoprosencephaly

Abstract

Disorders of the ventral induction give rise to a group of congenital malformations that share in common the failure of the prosencephalon cleavage and subsequent formation of midline structures, presenting with a wide spectrum of severity. This article focuses on the imaging findings of the holoprosencephaly spectrum and septo-optic dysplasia, their epidemiology, embryology, and the common clinical associated anomalies. Knowledge of the imaging features of these disorders is necessary for a correct interpretation of findings and accurate parental counseling. Diagnostic evaluation of patients should include molecular screening and genetic counseling to characterize prognosis and risk of recurrence.

Keywords: Brain; Holoprosencephaly; Magnetic resonance; Neurodevelopment; Syntelencephaly; Ventral induction.