KBG syndrome: report and follow-up on three unrelated patients observed at different ages

We underline similarities and differences among our patients, and their specific genetic and clinical features, in addition to the variable diagnostic tests used for the diagnosis, reached at different developmental age, i.e. infancy, childhood and adolescence. Pediatricians must be aware of KBG syndrome and should be able, as well, to raise the diagnostic suspicion, especially in the presence of peculiar dysmorphic features, short stature, developmental delay, intellectual disability and epilepsy. Prompt diagnosis may allow to better address any associated emerging neuropsychological and behavioral issues improving the quality of life of the patient and the whole family.