A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)

Abstract

Clinicians often have difἀculties diagnosing patients with subtle phenotypes of Noonan syndrome phenotypes. Facial recog-nition technology can help in the identiἀcation of several genetic syndromes with facial dysmorphic features, especially those with mild or atypical phenotypes. A patient visited our clinic at 5 years of age with short stature. She was administered growth hormone treatment for 6 years, but her growth curve was still below the 3rd percentile. She and her mother had wide-spaced eyes and short stature, but there were no other remarkable features of a genetic syndrome. We analyzed their photographs using a smartphone facial recognition application. The results suggested Noonan syndrome; therefore, we performed tar-geted next-generation sequencing of genes associated with short stature. The results showed that they had a mutation on the PTPN11 gene known as the pathogenic mutation of Noonan syndrome. Facial recognition technology can help in the diag-nosis of Noonan syndrome and other genetic syndromes, especially in patients with mild phenotypes.