In spite of the fact that the described genetic variant potentially has a LOF mechanism of action different from that in GOF variants linked to the Cantu syndrome, we prompted the deeper clinical phenotyping in order to search for Cantu-related clinical features and excluded the possibility of a mixed clinical phenotype linked to ABCC9 variants. This evidence concerns the gene ABCC9 and hypertrichotic osteochondrodysplasia Cantu type.