The girl (P.22) with the COL11A1 mutation had a phenotype consistent with mild Marshall syndrome (MIM #154780), with midfacial hypoplasia, cleft palate, a less severe ocular presentation, but striking ocular hypertelorism, and short stature with spondyloepiphyseal dysplasia (12). This evidence concerns the gene COL11A1 and spondyloepiphyseal dysplasia.