Figure 1.

Clinical Features of Individuals with Heterozygous Noonan Syndrome-Causing RRAS2 Variants

(A) Clinical appearance of subject 1 at 7 years and 11 months. Note the distinctive NS features, including bitemporal narrowing, downslanting palpebral fissures, ptosis, low-set ears, and low posterior hairline.

(B) Facial features of subject 2 at 2 years and 6 months. Facial features overlap those characterizing subject 1, even though a “coarse” face is also observed.

(C) Subject 2 brain MRI at 11 years and 9 months showing Chiari type 1 malformation and bilateral ventricular dilatation.

(D) Pedigree of family 3.

(E) Clinical appearance of subject 3-II-1 at the age of 11 months and 4.5 years.

(F) Facial features of subject 3-II-2 at 9 months and 5 years. The NS facial gestalt of subjects 3-II-1 and 3-II-2 became less obvious in adulthood.