Patient 1 is diagnosed as Malan syndrome with a 1.4 Mb 19p13.2-13.13 microdeletion including NFIX, while Patient 2 has Sotos syndrome with a 1.6 Mb 5q35.2 microdeletion encompassing NSD1. Our study contributes to the diagnosis and treatment of these diseases. This evidence concerns the gene NSD1 and Sotos syndrome.