Figure 3. [Lobar HPE]. - GeneReviews® - NCBI Bookshelf

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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 3.

Figure 3.

Lobar HPE

A. MRI in axial plane depicting lobar HPE, the least severe of the major types of HPE. The cerebral hemispheres are separated (blue/thick arrows); the ventricles are misshapen as a result of absence of the septum pellucidum. The posterior portion of the corpus callosum may be normally formed. There is a varying degree of fusion of the midline gray structures (thalami, basal ganglia, red/thin arrow).

B. Relatively normal facial appearance of a child with lobar HPE resulting from a pathogenic variant in ZIC2. Subtle dysmorphisms include narrow forehead (not apparent in this photo), upslanted palpebral fissures, relatively large ears, a relatively depressed nasal bridge, and a broad and well-defined philtrum.

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

From: Holoprosencephaly Overview

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Tekendo-Ngongang C, Muenke M, Kruszka P. Holoprosencephaly Overview. 2000 Dec 27 [Updated 2020 Mar 5]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Figure 3. [Lobar HPE].
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