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Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

From: Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders

Fig. 5

Clinical spectrum and MRI findings of patient C3 (a–g) and C46 (h–n). a, b Photographs of patient C3 harboring KIF21A R954W shows congenital bilateral ptosis (after correction of blepharoptosis) and joint contracture of right middle finger. c–g MRI findings of patient C3 (The MRI was taken at the age of 16). Atrophy of bilateral levator palpebrae superioris-superior rectus (LPS-SR) and bilateral medial rectus (MR), hypoplasia of bilateral oculomotor nerves (CN3), and bilateral facial nerves (CN7) are normal (f, g). h Facial photograph of patient C46 harboring KIF21A F355S shows congenital bilateral ptosis, facial weakness and bony prominence (arrow). i–n MRI findings of patient C3 (The MRI was taken at the age of 1y). Hypoplasia of corpus callosum (CC), LPS-SR, CN3 and absence of CN7(m–n, arrow)

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