Figure 1.

Clinical photographs

(A and B) Individual 1 at 5 years old showing mildly dysmorphic facial features including broad forehead, deep-set eyes, telecanthus, prominent bow-shaped upper lip, mildly coarse facial features, and mildly low-set ears.

(C and D) Individual 2 at 3 years old with mildly dysmorphic features including long palpebral fissures, deep-set eyes, prominent bow-shaped upper lip, and brachycephaly.

(E–G) Individual 3 at 7 (E) and 17 (F and G) years old with similarly mild dysmorphic features including broad forehead, deep-set eyes, and bow-shaped upper lip.

(H) Individual 4 demonstrating a broad forehead, deep-set eyes, and bow-shaped upper lip.

(I and J) Individual 6 showing frontal bossing, bilateral epicanthus, hypertelorism, deep-set eyes, horizontal eyebrows, and fleshy earlobes.

(K and L) Individual 7 demonstrating a broad forehead, telecanthus, low-set ears, and widely spaced teeth.