Figure 1. Chromosomal position (A), sequence chromatograms and published RIT1 mutations (B) and protein structure of described RIT1 mutations (C and D). E: Patient 1 (2 years).

Note facial dysmorphism including low set, posteriorly angulated ears, down-slanting palpebral fissures, anteverted nares with a depressed, broad nasal bridge, full lips with tented upper lip and sparse scalp hair, eyelashes and eyebrows. At the follow up the patient developed lymphangioedema of the lower extremity, adding a novel feature to the phenotype. F: Patient 2 (15 years): Note facial features consistent with Noonan syndrome with thick and curly hair, down-slanting palpebral fissures with bilateral ptosis, hypertelorism, and bilaterally low-set ears.