Fig. 6

Clinical and MRI spectrum of CFEOM patients with TUBB3 variants. (a1–a3), Patient C9-2 harboring S78T variant. a1 Congenital ptosis of right eye. a2 Atrophy of levator palpebrae superioris-superior rectus (arrow) in right eye. a3 Hypoplasia of the CN3 at the brainstem. The MRI was taken at the age of 4y. b1–b3 Patient C65 harboring R262C variant. b1 Congenital bilateral ptosis. b2, b3 Hypoplasia of CC and CN3. The MRI was taken at the age of 1y. c1–c6 Patient C6 harboring R380C variant. c1, c2 Congenital bilateral ptosis and chest wall malformation (red box). c3, c4 Hypoplasia of CC, brainstem (c, star), cerebellum (CER), basal ganglia (BG), thalamus (THA) and CN3 with the enlargement of lateral ventricle (LV). The MRI was taken at the age of 11y. d1–d8 Patients harboring E410K variants. d1, d2 Facial pictures of two patients (C21 and C32). d3–d8 Patient C32 exhibits hypoplasia of CC (d3), asymmetry of LV (d4), absence of olfactory bulbs and sulci (d5, arrow), hypoplasia of CN3 (d6) and absence of bilateral CN7 (d7, d8, arrow). The MRI was taken at the age of 19y