Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review

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, respec...

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Detalles Bibliográficos
Autores principales: Singh, Rohit K., Verma, Jitendra Singh, Srivastava, Arun K., Jaiswal, Awadhesh K., Behari, Sanjay
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964784/
https://www.ncbi.nlm.nih.gov/pubmed/21042516
http://dx.doi.org/10.4103/1817-1745.66685
Descripción
Sumario: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.

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