Child with KBG syndrome

This is the authors' abstract. We don't add key points for this paper.

We report a male child with developmental delay, microcephaly and facial dysmorphism in the form of a turri-brachycephaly-shaped skull, triangular face, posteriorly rotated lop ears, thick bushy eyebrows, synophrys, long deep philtrum and prominent incisors. The mobile application Face2Gene was used to screen the patient’s facial photographs for known syndromes. The application suggested a high likelihood of KBG syndrome. Exome sequencing confirmed this by identifying a heterozygous pathogenic known mutation p.Tyr1406Ter in the ANKRD11 gene. Thus, the diagnosis of KBG syndrome was suggested only by the Face2Gene application, and the confirmation required DNA testing such as exome sequencing analysis.