SLC26A2-associated skeletal dysplasias include a spectrum of nosological forms with an autosomal recessive mode of inheritance, from perinatally lethal achondrogenesis type IB and atelosteogenesis type II to clinically more severe diastrophic dysplasia and relatively mild MED type 4, which together form a clinical continuum that reflects different variants in the SLC26A2 gene [1,9,17]. Here, SLC26A2 is linked to achondrogenesis type IB.