Fig. 2

Facial features of individuals with pathogenic ZNF292 variants. (a, b) Photos of 17–027 showing a thin upper lip, smooth philtral folds, upturned nasal tip, sparse but long eyebrows with synophrys. (c,d) Photos of 18–007 at age 3.5 years showing epicanthal folds, mildly upslanted palpebral fissures, prominent forehead, and bulbous nose. (d) Hand photographs of the child showing ichthyosis. (e, f) Photo of 17–013 as a child (e) and as a teenager (f) showing laterally prominent ears, thick lips with a tented upper lip, short philtrum, prominent eyebrows with very prominent brow ridge, and deep set eyes. (g, h) Frontal and lateral facial photograph of 17–005 at age 4 years 1 month showing mild micrognathia, short philtrum, and mildly downslanting palpebral fissures. All affected individuals have a prominent chin.