Interestingly, homozygous PAPSS2 mutations had already been described in 1998 in a consanguineous Pakistani family presenting with spondyloepimetaphyseal dysplasia (SEMD) (5, 6), a subgroup of the large and heterogeneous group of bone dysplasias (7), whereas no clinically overt bone phenotype was found in our female patient (4), with only mild radiological evidence of platyspondyly within the thoracic spine. Here, PAPSS2 is linked to spondyloepimetaphyseal dysplasia.