In family 2, exome sequencing for a girl with acromesomelic dysplasia revealed a homozygous pathogenic PRKG2 variant c.1705C>T; p.(Arg569*) (online supplemental figure 2), observed previously in a patient with similar clinical and radiological features.2 Comparison of the available genomic data for F2-V-3 and the previously published case was not able to detect a shared haplotype across the PRKG2 locus. Here, PRKG2 is linked to acromesomelic dysplasia.