The purpose of this overview is to increase the awareness of clinicians regarding the FGFR craniosynostosis syndromes and their management.
Describe the clinical characteristics of FGFR craniosynostosis syndromes.
Review the genetic causes of FGFR craniosynostosis syndromes.
Provide an evaluation strategy to identify the genetic cause of an FGFR craniosynostosis syndrome in a proband.
Inform risk assessment and surveillance of at-risk relatives for early detection and treatment of FGFR craniosynostosis syndromes.
Summarize current management recommendations for individuals with an FGFR craniosynostosis syndrome.
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