Since our patients with an AHO-like phenotype were clinically diagnosed as having PPHP or POH (only for patient 5) and had platelet Gs hypofunction, GNAS screening for inactivation mutations was performed using leukocyte gDNA for sequencing the PCR amplified 13 exons, including exon/intron boundaries. The gene discussed is GNAS; the disease is progressive osseous heteroplasia.