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

ABSTRACT

Clinicians often have difficulties diagnosing patients with subtle phenotypes of Noonan syndrome phenotypes. Facial recognition technology can help in the identification 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 targeted 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 diagnosis of Noonan syndrome and other genetic syndromes, especially in patients with mild phenotypes.