case_images: PMC9941528_01
case_images: Cranio-facial phenotype of the case including up-slanting palpebral fissures, epicanthal fold, depressed nasal bridge anteverted nares, long philtrum, low-set and posteriorly rotated ears.
case_images: fneur-14-1090082-g0001.jpg
case_images: PMC9941528_01_fneur-14-1090082-g0001.jpg
case_images: F1
case_images: The patient is a 5-year-old girl, the second child of healthy, non-consanguineous parents (Figure 1).