Fig. 7

Clinical spectrum and MRI findings of CFEOM patients with TUBB3 R262H variant. a–c Congenital bilateral ptosis, facial weakness, joint contracture and funnel chest. d–f Hypoplasia of CC, brainstem (d, star), CER, BG, THA with asymmetry of Sylvian fissure (SF) and LV. g–j Absence of olfactory bulbs and sulci (g, arrow), CN3 (h, arrow) and CN7 (i, j, arrow). The MRI was taken at the age of 4y