case_images: PMC7279891_01
case_images: PMC7279891_02
case_images: Multiple congenital anomalies. (A) Slight coarsening of facial appearance, a short nose with anteverted nares and smooth philtrum. The ears were normally set and normal in size and configuration; (B) Fifth finger clinodactyly on hand; (C) Polydactyly on the left foot
case_images: 2317-6385-eins-18-eRC5335-gf01.jpg
case_images: PMC7279891_02_2317-6385-eins-18-eRC5335-gf01.jpg
case_images: f01
case_images: He had a short nose with anteverted nares and smooth philtrum (Figure 1). The patient also presented fifth-finger clinodactyly and polydactyly on the left foot (Figure 1).
case_images: Magnetic resonance imaging T2-weighted sagital image. (A) Aqueductal web (arrow) with supratentorial hydrocephalus and ballooning of the chiasmatic recess. The corpus callosum was thin. Magnetic resonance imaging T2-weighted coronal image. (B) Axial image. (C) Dilatation of the lateral ventricles and of the third ventricle, septum pellucidum absence (arrow in C) and cerebral hypomyelination
case_images: 2317-6385-eins-18-eRC5335-gf02.jpg
case_images: PMC7279891_02_2317-6385-eins-18-eRC5335-gf02.jpg
case_images: f02