Figure 1.

Female with a de novo non-sense mutation in ZBTB18: c.397G>T (p.(Glu133*)). (a) Patient at age 16 months. Dysmorphic features include arched eyebrows with telecanthus, short palpebral fissures, a long nose with a prominent tip, short philtrum, and micrognathia; (b) Patient at age 34 months. Dysmorphic features are similar to those at age 16 months; however, the nasal tip is less prominent, the philtrum is longer, and the upper lip is thinner. (c) Lateral view of the brain at age 15 months. Note the presence of a normal corpus callosum (white arrow).