Fig. 1
From: Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency
Patient ID 1 physical features. a bushy arched eyebrows, wide spaced eyes, bilateral epichantus, ptosis (prevalent in left eye), downslanting palpebral fissures, enlarged nasal sella with pressed columella and arched nasal pinnae, marked nasal philtrum, pointed chin; b chubby ear-lobes, low set-posteriorly rotated ears; c short neck, wide-spaced nipples, pes planus; d tented upper lip, pectus excavatum, widely spaced nipples