RELN and Schmid metaphyseal chondrodysplasia: Next-generation sequencing (NGS) analysis of a dedicated panel of genes associated with MCDs revealed 2 missense RELN variants, c.5461T>C (p.Tyr1821His) in Reelin repeat 4 (RR4) and c.3839G>A (p.Gly1280Glu) in RR3, denoted as Y1821H and G1280E, respectively (Figure 1B and Table 1).