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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 1.

Figure 1.

Alobar HPE

A. MRI of alobar holoprosencephaly (HPE), the most severe form of HPE, characterized by an enlarged midline monoventricle (holoventricle, red/thin arrow) with fusion of the frontal lobes and the midline gray matter structures (thalami and basal ganglia, blue/thick arrow). Typically, the corpus callosum and the third ventricle are absent.

B. Facial features seen in the alobar HPE spectrum, characterized by a single eye-like structure (cyclopia, red/thin arrow) and an overriding nose-like structure (proboscis, blue/thick arrow)

Gropman & Muenke [2005] Management of Genetic Syndromes. Copyright John Wiley & Sons Limited. Reproduced with permission.

From: Holoprosencephaly Overview

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