Figure 2 Facial appearance of 13 representative patients with Noonan syndrome (NS) carrying SOS1 mutations. The respective missense mutation is indicated below and the clinical assignment above each photograph. The female patient classified as having “mild NS” presented only with short stature and mild facial anomalies. Ichthyosiform skin changes in a patient carrying the mutation E846K are illustrated in the lower right image. Parental/guardian informed consent was obtained for publication of this figure.