Fig. 2: HCFP1 phenotype and facial nerve MRI. | Nature Genetics

Fig. 2: HCFP1 phenotype and facial nerve MRI.

From: Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Fig. 2

c,f,i,l,o, Photos of affected individuals attempting to smile (top) and close eyes (bottom) highlighting facial weakness (FW), lagophthalmos, absent forehead wrinkles and nasolabial folds, asymmetrical smile, upturned nasal tip and slit-like nares. a,b,d,e,g,h,j,k,m,n,p,q, MR images of facial nerve (VII, arrows) and vestibulocochlear nerve (VIII, arrowheads) in normal and HCFP1 individuals. R, right side; L, left side. a,b, Normal VII anatomy at the level of the right internal auditory canal (IAC) demonstrates origin and cisternal segments of right VII coursing parallel and ventral to VIII (a) and, more laterally, the right VII coursing through the IAC ventral to the superior vestibular branch of VIII (b). c–e, Fam1: III-2, L > R: FW, mild left lagophthalmos (c); markedly hypoplastic right and absent left VII (short arrow: anterior inferior cerebellar artery) (d); and VII not visualized within the IACs (e). f–h, Fam1: III-3, R > L: FW, bilateral lagophthalmos despite gold weight insertions (f); mild right VII hypoplasia (g); and left IAC narrowed, left VII markedly hypoplastic (h). i–k, Fam1: IV-4: asymmetrical R > L FW with good eyelid closure (i); and bilateral R > L VII hypoplasia (j,k). l–n, Fam3: III-2: bilateral L > R FW, R > L lagophthalmos (l); markedly hypoplastic right VII cisternal segment (m); mildly hypoplastic right VII IAC segment (n); and absent left VII cisternal segment (m,n). o–q, Fam9: IV-1: L > R FW, minimal lagophthalmos (o); right VII cisternal segment not visible; hypoplastic left VII cisternal and IAC segments (p,q).

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