The penetrance of NPR2 heterozygous mutation was high, but the clinical presentation of patients was variable, and most of the patients showed short stature without skeletal dysplasia; however, patients with skeletal dysplasia similar to Léri-Weill dyschondrosteosis (LWD) were also observed [23]. This evidence concerns the gene NPR2 and Léri-Weill dyschondrosteosis.