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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Clinical, molecular and glycophenotype insights in SLC39A8-CDG

Fig. 2

Magnetic Resonance Imaging scans of Patient-3. Sagittal T1-weighted image (a) shows a thinning of the genu of the corpus callosum (asterisk) and a slight hypetrophy of the anterior commissure (head-arrow). Scaphocephalic skull is also evident. Sagittal (a) and coronal (b) T1-weighted images show normal cerebellum. Axial T1-weighted image (c) shows dysmorphic features of lateral ventricles with dilatation of the frontal horns (arrow) and irregular ventricular walls (small arrows). A reduction of volume of insulo-temporal white matter (head-arrow) is also evident. Axial T2-weighted images (d–e) show normal signal of the white matter at the level of the posterior limb of the internal capsule (head-arrow) and of the paracentral region (oval)

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