Figure 2

Figure 2

Facial features and brain imaging of patients. (A) Facial photographs of four patients showing distinctive facial features: Patient 1—bifrontal narrowing, long eyelashes, upslanting palpebral fissures, hypertelorism, full cheeks, full nasal tip, tented upper lip, full lower lip; Patient 2—round face, frontal prominence, bifrontal narrowing, long eyelashes, hypertelorism, short nose, broad nasal bridge, full nasal tip, full cheeks, tented upper lip, full lower lip; Patient 3—long face, bifrontal narrowing, infraorbital crease, smooth philtrum, full lower lip; Patient 4—microcephaly, low anterior hairline, bifrontal narrowing, hypertrichosis over forehead, synophrys, long eyelashes, hypertelorism, upslanting palpebral fissures, epicanthus, full cheeks, short nose, full nasal tip, tented upper lip, full lower lip. (B) Brain MRI images: B1 and B2—sagittal T1-weighted image and coronal fluid-attenuated inversion recovery images demonstrating selective atrophy of the cerebellar cortex, involving both the cerebellar vermis (arrow, B1) and hemispheres (asterisk, B2); B3—axial T2WI showing relatively small frontal horns and hypoplastic frontal lobes (short arrows, B3) compared with the rest of the brain.