ESPE Yearbook of Paediatric Endocrinology

In Brief: The authors tested the diagnostic ability of the Face2Gene app in 23 children with a clinical or genetically confirmed diagnosis of Silver-Russell syndrome (SRS) and 29 children with genetically confirmed Prader-Willi syndrome (PWS). When combined with careful routine clinical history and examination, the Face2Gene app can be a useful diagnostic tool.Among PWS patients, Face2Gene calculated the top 1, top 5, and top 10 sensitivities to be 76%, ...