After comparison of genes from filtering results with candidate genes known to play a role in chondrodysplasia, dwarfism, growth retardation, proportionate dwarfism and inherited congenital skeletal malformations, only two variants were identified in the candidate gene list located in ACAN (ACAN:g.20850999insC) and PKD1 (PKD1:g.1643626C > T) (Additional file 3). The gene discussed is PKD1; the disease is chondrodysplasia.