COMP and dysplasia: Postnatal trio-WES ruled out UPD14, and showed a de novo heterozygous mutation, NM_000095: c.1417_1419dup (p. D473dup), in COMP in the female infant (Fig. 3), which was an incidental finding associated with autosomal dominant pesudoachondroplasia (PSACH, OMIM:177,170), multiple epiphyseal dysplasia 1 (EDM1, OMIM:132,400), and carpal tunnel syndrome 2 (CTS2, OMIM:619,161).