Fig. 4

Phenotypic features of Patient 19. A Facial appearance was assessed. Epidermal nevi were observed in the right frontal and infraorbital regions. Despite undergoing debulking surgery at another center, facial asymmetry was still conspicuous. B BR revealed abnormalities in the zygomatic bone, maxilla, and mandible, along with dental misalignment. C T2-weighted axial image demonstrated hemimegalencephaly on the right side. The patient had previously undergone surgery for epilepsy. D T1-weighted axial image revealed extensive infiltration of fat into the soft tissues on the left side