We also lacked sufficient data regarding a number of other molecular factors for which previous studies have suggested a possible association with LMD, including BRAF V600E mutation [11, 31], FGFR2 alteration [10], PTEN mutation [32], PIK3CA activating mutation [33], gains at the 1p36 chromosomal region [34] and H3K27M mutation [35]. Here, PIK3CA is linked to Langer mesomelic dysplasia.