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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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
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author Singh, Rohit K.
Verma, Jitendra Singh
Srivastava, Arun K.
Jaiswal, Awadhesh K.
Behari, Sanjay
author_facet Singh, Rohit K.
Verma, Jitendra Singh
Srivastava, Arun K.
Jaiswal, Awadhesh K.
Behari, Sanjay
author_sort Singh, Rohit K.
collection PubMed
description 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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spelling pubmed-29647842010-11-01 Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review Singh, Rohit K. Verma, Jitendra Singh Srivastava, Arun K. Jaiswal, Awadhesh K. Behari, Sanjay J Pediatr Neurosci Case Report 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. Medknow Publications 2010 /pmc/articles/PMC2964784/ /pubmed/21042516 http://dx.doi.org/10.4103/1817-1745.66685 Text en © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Singh, Rohit K.
Verma, Jitendra Singh
Srivastava, Arun K.
Jaiswal, Awadhesh K.
Behari, Sanjay
Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review
title Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review
title_full Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review
title_fullStr Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review
title_full_unstemmed Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review
title_short Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review
title_sort common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: a pictorial review
topic Case Report
url 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
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AT jaiswalawadheshk commonprimaryfibroblasticgrowthfactorreceptorrelatedcraniosynostosissyndromesapictorialreview
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