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Flow diagram for molecular genetic diagnosis of craniosynostosis, showing the minimum tests recommended for each clinical presentation. In practice, the Oxford laboratory bundles sequencing of the FGFR1, FGFR2 (exons IIIa and IIIc), FGFR3 and TWIST1 genes together into a single ‘level 1' screen to simplify the workflow.41 If the suggested tests are negative, the diagnosis should be reviewed.
