case_images: PMC8173053_01
case_images: PMC8173053_02
case_images: Female patient at the age of 5 years old presenting with facial dysmorphic signs including apparent asymmetry hypoplasia of eyes (A), widely spaced front teeth (B), Simian crease (C), and polydactyly (D).
case_images: fgene-12-648351-g0001.jpg
case_images: PMC8173053_02_fgene-12-648351-g0001.jpg
case_images: F1
case_images: On physical examination, facial dysmorphism was noticed including apparent asymmetry hypoplasia of the eyes (Figure 1A), left nystagmus, and widely spaced front teeth (Figure 1B). Her palmar crease was transverse on both hands (Figure 1C), and her right smallest toe was duplicated (Figure 1D).
case_images: MRI of the patient's brain showing dilation of bilateral ventricles, a small patchy abnormal signal in paraventricular white matter (A), hypogenesis of corpus callosum (B), small right eye, and abnormal shape and signal of the lens (C,D).
case_images: fgene-12-648351-g0002.jpg
case_images: PMC8173053_02_fgene-12-648351-g0002.jpg
case_images: F2
case_images: Her brain magnetic resonance imaging (MRI) showed dilation of bilateral ventricles, a small patchy abnormal signal in paraventricular white matter (Figure 2A), hypogenesis of corpus callosum (HCC) (Figure 2B), small right eye, abnormal shape and signal of the lens, and slightly thinner optic nerve on the right side (Figures 2C,D).