case_images: PMC10616848_01
case_images: Facial features of patient 1 (c.261T>G, p.Tyr87*), including high forehead, short palpebral fissures, flat nasal bridge, and large philtrum.
case_images: fped-11-1292654-g001.jpg
case_images: PMC10616848_01_fped-11-1292654-g001.jpg
case_images: F1
case_images: The patient presented with a high forehead, prominent occipital protuberance, short palpebral fissures, flat nasal bridge, large philtrum, macroglossia, and a crumpled helix (Figure 1).
case_images: Brain MRI of patient 1 at 2.5 years of age. (A) Mid-sagittal T1-weighted image showing Chiari I malformation. (B) Axial T1-weighted image showing subependymal heterotopia.
case_images: fped-11-1292654-g002.jpg
case_images: PMC10616848_01_fped-11-1292654-g002.jpg
case_images: F2
case_images: The brain MRI carried out at 2.5 years, showed Chiari I malformation and subependymal grey matter heterotopia (Figure 2).
case_images: Photographs of patient 2 (c.344G>A, p.Arg115Gln) showing mild dysmorphic facial features and pes planus.
case_images: fped-11-1292654-g003.jpg
case_images: PMC10616848_01_fped-11-1292654-g003.jpg
case_images: F3
case_images: Patient 2 (P2) (Figure 3) is the second child of non-consanguineous parents with an unremarkable family history.
case_images: Brain MRI of patient 2 at 3 years of age. (A) Mid-sagittal T1-weighted image showing hypoplasia of the corpus callosum. (B) Axial T2-weighted image at the level of the lateral ventricles.
case_images: fped-11-1292654-g004.jpg
case_images: PMC10616848_01_fped-11-1292654-g004.jpg
case_images: F4
case_images: The brain MRI at 3 years of age (Figure 4) revealed a thin corpus callosum, dysmorphic appearance of the lateral ventricles, and a retrocerebellar arachnoid cyst.