Figure 1.

Facial Phenotype of Individuals with CHAMP1-Associated Disorder

Facial images of individual A:II-1 at age 4 years (A), individual B:II-3 at the age of 12 months and 6 years (B), individual C:II-2 from the age of 6 till 18 years (C), individual D:II-2 at birth and at age 3 years (D), and individual E:II-2 at the age 4 and 9 years (E). Note the long face, orofacial hypotonia, epicanthic folds, upslanting palpebral fissures, short philtrum, thin and tented upper lip and everted lower lip, pointed chin, and deep-set ears.