Conclusions
2q37 deletion syndrome is a rare disease that has affected around 100 reported cases worldwide. The deletion results in developmental delay, brachydactyly of the third to fifth digits and/or toes, obesity, short stature, change of facial appearance, and an autism spectrum disorder. In our report, we have reported a very rare case with 2q37 deletion syndrome confirmed by comparative genomic hybridization (CGH) plus single nucleotide polymorphism (SNP) that presented with unusual cardiac anomalies (patent foramen ovale with a left to right shunting). However, on follow-up, the patient showed improvement with the physical therapy.