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Crouzon's syndrome: A review of literature and case report

Crouzon's syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, th...

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Autores principales: Padmanabhan, Vivek, Hegde, Amitha M., Rai, Kavita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications Pvt Ltd 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214529/
https://www.ncbi.nlm.nih.gov/pubmed/22215936
http://dx.doi.org/10.4103/0976-237X.86464
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author Padmanabhan, Vivek
Hegde, Amitha M.
Rai, Kavita
author_facet Padmanabhan, Vivek
Hegde, Amitha M.
Rai, Kavita
author_sort Padmanabhan, Vivek
collection PubMed
description Crouzon's syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early then it may interfere with the growth of the brain. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Case report of a 7 year old boy is presented with characteristic features of Crouzon's syndrome with mental retardation. The clinical, radiographic features along with the complete oral rehabilitation done under general anesthesia and preventive procedures done are described.
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spelling pubmed-32145292012-01-03 Crouzon's syndrome: A review of literature and case report Padmanabhan, Vivek Hegde, Amitha M. Rai, Kavita Contemp Clin Dent Case Report Crouzon's syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early then it may interfere with the growth of the brain. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Case report of a 7 year old boy is presented with characteristic features of Crouzon's syndrome with mental retardation. The clinical, radiographic features along with the complete oral rehabilitation done under general anesthesia and preventive procedures done are described. Medknow Publications Pvt Ltd 2011 /pmc/articles/PMC3214529/ /pubmed/22215936 http://dx.doi.org/10.4103/0976-237X.86464 Text en Copyright: © Contemporary Clinical Dentistry http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Padmanabhan, Vivek
Hegde, Amitha M.
Rai, Kavita
Crouzon's syndrome: A review of literature and case report
title Crouzon's syndrome: A review of literature and case report
title_full Crouzon's syndrome: A review of literature and case report
title_fullStr Crouzon's syndrome: A review of literature and case report
title_full_unstemmed Crouzon's syndrome: A review of literature and case report
title_short Crouzon's syndrome: A review of literature and case report
title_sort crouzon's syndrome: a review of literature and case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214529/
https://www.ncbi.nlm.nih.gov/pubmed/22215936
http://dx.doi.org/10.4103/0976-237X.86464
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