Kiran Mahadev Sargar MBBS, MD, Presenter: Nothing to Disclose

Thomas Eugene Herman MD, Abstract Co-Author: Nothing to Disclose

Marilyn J. Siegel MD, Abstract Co-Author: Research Consultant, Siemens AG Speakers Bureau, Siemens AG

Fibroblast growth factor receptors (FGFR) have role in cell proliferation,growth,differentiation and migration. Genetic mutations in gene encoding FGFR types 1, 2 and 3 are responsible for specific skeletal dysplasias & craniosynostosis syndromes. Genetic diagnosis of mutations in FGFRs can be predicted based on skeletal imaging findings and appropriate genetic tests can be performed to establish the diagnosis.  

1. Classification of skeletal disorders associated with mutations in FGFR genes. I. FGFR 1 mutations- a) Pfeiffer syndrome b) Osteoglophonic dysplasia II. FGFR 2 mutations-  a) Crouzon syndrome b) Apert syndrome  III. FGFR 3 mutations- a) Achondroplasia b) Hypochondroplasia c) Thanatophoric dysplasia d)  Crouzonodermoskeletal syndrome e) SADDAN syndrome. 2. Review clinical and imaging features of skeletal disorders associated with mutations in fibroblast growth factor receptor gene. Conclusion: Understanding the imaging findings of gene-encoded FGFR skeletal disorders can facilitate interactions with geneticists and selection of appropriate genetic testing.  

http://abstract.rsna.org/uploads/2014/14009439/14009439_ctlw.pdf

Sargar, K, Herman, T, Siegel, M, Skeletal Manifestations of Fibroblast Growth Factor Receptor (FGFR) Gene Mutations- Can We Predict Genetic Diagnosis on the Basis of Imaging?.  Radiological Society of North America 2014 Scientific Assembly and Annual Meeting, - ,Chicago IL. http://archive.rsna.org/2014/14009439.html