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Crouzon’s Syndrome: A Rare Genetic Disorder

Crouzon’s syndrome, also known as brachial arch 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...

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Autores principales: Kaushik, Anupriya, Bhatia, Hindpal, Sharma, Naresh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Jaypee Brothers Medical Publishers 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5233708/
https://www.ncbi.nlm.nih.gov/pubmed/28127173
http://dx.doi.org/10.5005/jp-journals-10005-1395
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author Kaushik, Anupriya
Bhatia, Hindpal
Sharma, Naresh
author_facet Kaushik, Anupriya
Bhatia, Hindpal
Sharma, Naresh
author_sort Kaushik, Anupriya
collection PubMed
description Crouzon’s syndrome, also known as brachial arch 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 craniosynostosis, with associated dentofacial anomalies. This report describes the different clinical features in a 10-year-old male patient, with particular reference to characteristic findings of this syndrome. HOW TO CITE THIS ARTICLE: Kaushik A, Bhatia H, Sharma N. Crouzon’s Syndrome: A Rare Genetic Disorder. Int J Clin Pediatr Dent 2016;9(4):384-387.
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spelling pubmed-52337082017-01-26 Crouzon’s Syndrome: A Rare Genetic Disorder Kaushik, Anupriya Bhatia, Hindpal Sharma, Naresh Int J Clin Pediatr Dent Case Report Crouzon’s syndrome, also known as brachial arch 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 craniosynostosis, with associated dentofacial anomalies. This report describes the different clinical features in a 10-year-old male patient, with particular reference to characteristic findings of this syndrome. HOW TO CITE THIS ARTICLE: Kaushik A, Bhatia H, Sharma N. Crouzon’s Syndrome: A Rare Genetic Disorder. Int J Clin Pediatr Dent 2016;9(4):384-387. Jaypee Brothers Medical Publishers 2016 2016-12-05 /pmc/articles/PMC5233708/ /pubmed/28127173 http://dx.doi.org/10.5005/jp-journals-10005-1395 Text en Copyright © 2016; Jaypee Brothers Medical Publishers (P) Ltd. This work is licensed under a Creative Commons Attribution 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by/3.0/
spellingShingle Case Report
Kaushik, Anupriya
Bhatia, Hindpal
Sharma, Naresh
Crouzon’s Syndrome: A Rare Genetic Disorder
title Crouzon’s Syndrome: A Rare Genetic Disorder
title_full Crouzon’s Syndrome: A Rare Genetic Disorder
title_fullStr Crouzon’s Syndrome: A Rare Genetic Disorder
title_full_unstemmed Crouzon’s Syndrome: A Rare Genetic Disorder
title_short Crouzon’s Syndrome: A Rare Genetic Disorder
title_sort crouzon’s syndrome: a rare genetic disorder
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5233708/
https://www.ncbi.nlm.nih.gov/pubmed/28127173
http://dx.doi.org/10.5005/jp-journals-10005-1395
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