Figure 1.

Photographs of Six Individuals in whom RIT1 Mutations Were Identified

(A–D) KCC38 at 3 years of age. Broad forehead, sparse eyebrows, ptosis, hypertelorism, and hyperpigmentation were observed (A and B). Prominent finger pads were observed (C and D).

(E–H) NS358 at 4 years of age. Hypertelorism, epicanthus, sparse eyebrows, and low-set ears were observed.

(I) NS414 at 3 years of age.

(J) NS465 at 1 year of age.

(K) NS276 at 5 months.

(L) NS265 at 5 years of age.

(M) Structure and identified germline alterations in RIT1 and HRAS. HRAS alterations identified in individuals with Costello syndrome were described before²⁰ or shown in The RAS/MAPK Syndromes Homepage (see Web Resources). HRAS alterations identified in individuals with congenital myopathy with excess of muscle spindles³⁵ are indicated in purple.

We obtained specific consent for photographs from six individuals.