Figure 4.

Facial Features of Individuals with Heterozygous CDC42 Mutations

(A–C) Subject 3 (p.Tyr64Cys) at age 2 years and 6 months (A) and 15 years (B and C) showing upslanted palpebral fissures, smooth philtrum, flaring alae nasi, thin upper vermilion, and wide mouth with widely spaced teeth.

(D) Subject 4 (p.Arg66Gly) at 15 years showing broad forehead and broad nasal bridge with bulbous nasal tip.

(E and F) Subject 6 (p.Arg68Gln) at 24 months (E) and 4 years (F) showing a prominent broad forehead, hypertelorism, long philtrum, and thin upper vermilion.

(G and H) Subject 9 (p.Ser83Pro) at age 2 (G) and 6 (H) years showing prominent forehead, hypertelorism, wide mouth with cupid’s bow, thin upper vermilion, and widely spaced teeth.

(I and J) Subject 10 (p.Ser83Pro) at 13 (I) and 32 (J) years showing prominent forehead, wide nasal bridge, ptosis, flared nostrils, and wide mouth with widely spaced teeth.

(K and L) Subject 11 (p.Ala159Val) at 2 years (K) and at 3 years and 7 months (L) showing very broad and prominent forehead, bulbous nasal tip, flared nostrils, cupid’s bow, and downturned corners of the mouth.

(M–O) Subject 1 (p.Ile21Thr) at age 3 months (M), 2 years (N), and 10 years (O) showing synophrys, wide palpebral fissures, high and narrow nasal bridge, bulbous nasal tip, wide mouth with downturned corners, and mildly laterally prominent ears.

(P) Subject 2 (p.Tyr23Cys) at 14 years showing wide palpebral fissures, high nasal bridge with elevated nasal tip, short philtrum, and long neck.

(Q) Subject 12 (p.Glu171Lys) at 12 years showing typical facial features of Noonan syndrome, including broad forehead, hypertelorism, low-set ears, bulbous nasal tip, and flared nostrils.

(R) Subject 13 (p.Glu171Lys) showing ptosis, broad neck, and pectus deformity.

Note that individuals fitting the different mutation groups share some facial characteristics, and that intragroup variability is also observed.