A: Illustration of the horizontal corneal diameter of Patient 1, an adult female patient with a microform of HPE due to a SHH mutation in the C-terminus of the gene; corneal diameters measured ~10mm (distance between red bars), while the average is ~12mm for adult women (distance between green bars). B: Patient 4, a child with a 7q36 deletion including SHH, presented with hypotelorism, upslanting palpebral fissures, and esotropia. C: Patient 5, a child with a microform of HPE due to a SHH mutation in the C-terminus of the gene, presented with hypotelorism, right exotropia and left blepharoptosis. D: Patient 8, a child with semilobar HPE due to a SIX3 mutation, presented with hypotelorism, and right exotropia.