Testing for monogenic syndromes
Testing for the known FGFR3 pathogenic variants was negative for all tested cases. Seven cases with normal CMA results were highly suspicious for skeletal dysplasia; therefore, additional testing was performed. Whole exome sequencing performed in 2 cases detected a VUS in the in the COLO1A1 gene (c.2519C>T; p.P840L), in one of the cases.