We identified a COL1A1 mutation known to be responsible for OI, and a novel C-propeptide domain mutation in COL5A1. To the best of our knowledge, this is the first report of patients with compound phenotypes of OI and EDS that harbor both COL1A1 and COL5A1 mutations. The gene discussed is COL5A1; the disease is Ehlers-Danlos syndrome.