Variants of the XYLT1 gene are responsible for skeletal dysplasias, including Baratela–Scott syndrome (OMIM 615777, formerly erroneously called Desbuquois dysplasia type 2) [5,6,7,8,9,10], variants of XYLT2 are the cause of the spondylo-ocular syndrome (OMIM 605822) [11,12,13], while variants of B3GAT3 cause a Larsen-like syndrome and a more severe skeletal dysplasia (OMIM 245600) [14,15,16,17,18,19,20]. This evidence concerns the gene XYLT1 and Desbuquois dysplasia 2.