PMC9382078_01
Overlapping facial regions of case photo and composite photo are indicated by the colored halo from red to blue (A) TBRS (B) SBBYSS.
fgene-13-903199-g001.jpg
PMC9382078_01_fgene-13-903199-g001.jpg
F1
The patient exhibited the typical features associated with SBBYSS, i.e., blepharophimosis, epicanthus inversus, micrognathia, thin upper lip, and thin lip vermilion, exactly as highlighted by the red color of the heat map, and other features such as a flat broad nasal bridge and bulbous nose were highlighted by the green and blue colors of the heat map (Figure 1B).
In patient B, 10 syndromes were automatically suggested by the Face2Gene platform as a tentative diagnosis based on (A) facial gestalt (frontal image) alone and (B) facial gestalt combined with clinical symptoms.
fgene-13-903199-g003.jpg
PMC9382078_01_fgene-13-903199-g003.jpg
F3
In both frontal image and clinical feature analyses, SBBYSS ranked first among all diagnoses (Figure 3).