EXT1 and trichorhinophalangeal syndrome: This was the case with cases diagnosed as multiple exostoses (exon coverage for EXT1, 60-215X; EXT2, 150X), geleophysic dysplasia (ADAMTSL2, 100-385X; FBN1, 115X), MOPDII (PCNT 95-690X), trichorhinophalangeal syndrome (TRPS1, 106-230X), Hajdu-Cheney syndrome (NOTCH2, 33-502X, including 201X for exon 34), and occulodentodigital syndrome (GJA1, 80X).