Fig. 1
From: A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome
Pedigree, variant analysis and systemic anomalies of the patient (II:1). a The proband is indicated by an arrow. Subject II:1, I:1 and I:2 were tested by WES. b Chromatogram shows FOXC1 heterozygous c.516_518delGCG detected in patient II:1. c Audiogram showed bilateral conductive hearing loss of affected subjects II:1 (red, right ear; blue, left ear). d Hypertelorism of the patient. e Microdontia (small teeth), cone-shaped teeth, and fewer teeth of the patient. f Slit-lamp examination revealed pupil deformation in both eyes. g The ocular fundus was normal and the cup-to disc ratio in each eye was about 0.3. h Normal periumblical skin of the patient II:1