Figure 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.
