Open AccessCommon primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review
Author(s) -
Rohit Singh,
Jitendra Singh Verma,
Arun Kumar Srivastava,
Awadhesh Kumar Jaiswal,
Sanjay Behari
Publication year - 2010
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.66685
Subject(s) - craniosynostosis , medicine , apert syndrome , fibroblast growth factor receptor , presentation (obstetrics) , phenotype , receptor , genetics , fibroblast growth factor , anatomy , surgery , biology , gene
Mutations in different types of fibroblastic growth factor receptors (FGFRs) have been associated with a variety of phenotype abnormalities, the common ones being Apert, Crouzon and Pfeiffer syndromes. In this study, we present two representative cases having the Apert and Pfeiffer syndromes, respectively, and discuss their clinical presentation, sequel and surgical implications.