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Fig. 8 | Orphanet Journal of Rare Diseases

Fig. 8

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

Fig. 8

Photographs of the patient D2-1 harboring H217R variant in CHN1 gene. a Nine gaze photographs show limited abduction, globe retraction with narrowing of the palpebral fissure on attempted adduction. b Pedigree of autosomal dominant D2. c–e Hypoplasia of the bilateral CN6 and aberrant innervation of LR by the inferior branches of CN3. d, e Two consecutive coronal MRI images to show the course of CN3. The MRI was taken at the age of 5y. f Genomic sequence chromatogram of heterozygous variant c.650A > G, p.H217R (arrow) in CHN1 gene

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172