The CANT1 gene (Calcium-activated nucleotidase 1, MIM *613165), encoding an extracellular protein that functions as a nucleotide tri- and diphosphatase [24], is responsible for a spectrum of skeletal dysplasia with diverse indications, including the Desbuquois dysplasia 1 (MIM #251450) [25], the multiple epiphyseal dysplasia 7 (MED, MIM #617719) [26], and the pseudodiastrophic dysplasia (PDD, MIM #264180) [27]. This evidence concerns the gene CANT1 and Desbuquois syndrome.