Abstract
Holoprosencephaly (HPE) is a complex forebrain congenital malformation with widely variable outcomes. It represents a disorder of ventral induction, which begins in the fifth gestational week. Its main feature is forebrain cleavage failure, which prevents the brain complete division into right and left hemispheres, the normal development of midline structures, and the deep brain structure. Based on the severity of prosencephalic cleavage failure, three classic forms (lobar, semilobar, and alobar) were described, and subsequently, interhemispheric variant (syntelencephaly) and septopreoptic variants were proposed. This review proposes a practical imaging approach to diagnosing HPE spectrum disorders, allowing an easier recognition and earlier diagnosis, which is essential for prenatal care and adequate parental counseling. In addition, we intend to simplify the understanding of HPE through a didactic discussion, schematic illustrations, and descriptions of each entity's current classification and critical neuroimaging features, as well as the main differential diagnosis of HPE.
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