IMPE Abstracts

Introduction: Face2Gene (FDNA Inc., Boston, MA) is a web application for artificial intelligence-driven facial phenotyping, providing a list of the top thirty candidate syndromes based on gestalts from two-dimensional facial images of patients. Although the effectiveness of Face2Gene for the diagnosis of congenital syndromic disorders has been reported mainly in Caucasian populations, the sensitivities for syndromic endocrine-related disorders and the performa...

Introduction: Short stature is a common phenotype among patients with congenital syndromic disorders. However, the clinical diagnosis of such patients is often difficult because of their rarity and phenotypic complexity.Objective: To investigate the genetic etiology of syndromic short stature of unknown cause in our institute.Methods: We performed trio whole-exome sequencing in 35 ...