Figure 1.

Clinical Features of Probands

(A) Front view of proband 1 at age 21 years. Distinctive features include thin, sparse, arched eyebrows; curly hair; mild hypotelorism; a prominent bulbous nose; a wide mouth with wide spaced teeth; a thin upper lip; and a long smooth philtrum.

(B) Facial profile of proband 1 at age 23 years shows midface retrusion.

(C) Photograph of proband 1 from the newborn period shows mild hypotelorism and fleshy nose.

(D) Dysmorphic facial features, including hypotelorism and a prominent nose with a bulbous tip, were observed in proband 2.

(E and F) T1 (E) and T2 (F) brain MRI images for proband 2 show mild atrophy.

(G) Dysmorphic features, including ocular hypertelorism; a prominent nose with a bulbous tip,;U-shaped vermillion and arched upper lip; and a large mouth were observed in proband 3.

(H and I) T1 (H) and T2 (I) brain MRI images for proband 3 show delayed myelination.