4  12D11570  M  c.1165C>T (p.Gln389∗)  bicoronal synostosis, partial R lambdoid synostosis, bony defect of metopic and sagittal sutures  1  mildly enlarged lateral ventricles, shortened corpus callosum, hypoplastic pons, enlarged foramen magnum  strabismus sursoadductorius  moderate-severe  –