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.