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Review

FGFR Craniosynostosis Syndromes Overview

Tara Wenger  1 , Danny Miller  1 , Kelly Evans  1
Margaret P Adam, Sarah Bick, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

FGFR Craniosynostosis Syndromes Overview

Tara Wenger et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of FGFR craniosynostosis syndromes;

  2. 2

    Review the genetic causes of FGFR craniosynostosis syndromes;

  3. 3

    Provide an evaluation strategy to identify the genetic cause of an FGFR craniosynostosis syndrome in a proband;

  4. 4

    Summarize current management recommendations for individuals with an FGFR craniosynostosis syndrome;

  5. 5

    Inform risk assessment and surveillance of at-risk relatives for early detection and treatment of FGFR craniosynostosis syndromes.

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References

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    1. Barbosa M, Almeida Mdo R, Reis-Lima M, Pinto-Basto J, dos Santos HG. Muenke syndrome with osteochondroma. Am J Med Genet. 2009;149A:260-1. - PubMed
    1. Bessenyei B, Tihanyi M, Hartwig M, Szakszon K, Oláh É. Variable expressivity of Pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. Am J Med Genet A. 2014;164A:3176-9. - PubMed
    1. Bissacotti Steglich EM, Steglich RB, Melo MM, de Almeida HL Jr. Extensive acne in Apert syndrome. Int J Dermatol. 2016;55:e596-8. - PubMed
    1. Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, Deininger PL, Wilkie AO. Rare mutations of FGFR2 causing Apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Hum Mutat. 2009;30:204-11. - PubMed