NOTCH2 and acroosteolysis dominant type: The pathogenic variants associated with LMS are analogous to those reported in Hajdu Cheney Syndrome (HCS), a genetic disorder caused by pathogenic variants in exon 34 of NOTCH2 resulting in the translation of a truncated NOTCH2 protein lacking the PEST domain and a gain-of-NOTCH2 function (Isidor et al., 2011; Simpson et al., 2011; Canalis and Zanotti, 2014; Canalis, 2018).