Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.

ABSTRACT: Holoprosencephaly (HPE) is the most common malformation of the prosencephalon in humans. It is characterized by a continuum of structural brain anomalies resulting from the failure of midline cleavage of the prosencephalon. The three classic subtypes of HPE are alobar, semilobar and lobar, although a few additional categories have been added to this original classification. The severity of the clinical phenotype is broad and usually mirrors the radiologic and associated facial features. The etiology of HPE includes both environmental and genetic factors. Disruption of sonic hedgehog (SHH) signaling is the main pathophysiologic mechanism underlying HPE. Aneuploidies, chromosomal copy number variants and monogenic disorders are identified in a large proportion of HPE patients. Despite the hi

SUBMITTER: Malta M 

PROVIDER: S-EPMC10137117 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature