Here, we describe a family with atypical features of type II collagenopathies caused by a novel mutation in COL2A1. As far as we know, this truncating mutation in the C-propeptide region is the farthest one from the 3’ end of the gene that causes a disease with short stature, suggesting the existence of the mutant protein. This evidence concerns the gene COL2A1 and type 2 collagenopathy.