After WES, the homozygous PV p.(Asp311Glu) in YARS2 was identified, reaching the precise diagnosis, and suggesting a phenotypic expansion of MLASA2 toward some skeletal abnormalities, such as epiphyseal dysplasia, widening of the metaphysis, irregularity and widening of rib cages, and poorly defined vertebral structures, because scoliosis was previously reported by Riley in a patient harboring another PV [p.(Phe52Leu)]. The gene discussed is YARS2; the disease is Epiphyseal dysplasia.