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Crouzon syndrome - A rare case report

Crouzon syndrome is the most common syndrome among the craniosynostosis group. Crouzon syndrome accounts for about 4.8% of all of them. It commonly has autosomal dominant inheritance with complete penetrance and variable expressivity from subtle to severe forms and characterized by craniosynostosis,...

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Autores principales: Kalanjiam, Vidhya, Manoharan, G. V. Murali Gopika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Qassim Uninversity 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654191/
https://www.ncbi.nlm.nih.gov/pubmed/29085273
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author Kalanjiam, Vidhya
Manoharan, G. V. Murali Gopika
author_facet Kalanjiam, Vidhya
Manoharan, G. V. Murali Gopika
author_sort Kalanjiam, Vidhya
collection PubMed
description Crouzon syndrome is the most common syndrome among the craniosynostosis group. Crouzon syndrome accounts for about 4.8% of all of them. It commonly has autosomal dominant inheritance with complete penetrance and variable expressivity from subtle to severe forms and characterized by craniosynostosis, exophthalmos, and hypoplastic maxilla with relative mandibular prognathism. Mutation of the fibroblast growth factor receptor-2 gene is responsible for the occurrence of this rare genetic disorder. Our paper reports the diagnosis of this rare syndrome in a young female patient based on clinical and radiographical features. Prompt and timely management of the syndrome has enabled this patient to lead a normal life despite the syndrome.
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spelling pubmed-56541912017-10-30 Crouzon syndrome - A rare case report Kalanjiam, Vidhya Manoharan, G. V. Murali Gopika Int J Health Sci (Qassim) Case Report Crouzon syndrome is the most common syndrome among the craniosynostosis group. Crouzon syndrome accounts for about 4.8% of all of them. It commonly has autosomal dominant inheritance with complete penetrance and variable expressivity from subtle to severe forms and characterized by craniosynostosis, exophthalmos, and hypoplastic maxilla with relative mandibular prognathism. Mutation of the fibroblast growth factor receptor-2 gene is responsible for the occurrence of this rare genetic disorder. Our paper reports the diagnosis of this rare syndrome in a young female patient based on clinical and radiographical features. Prompt and timely management of the syndrome has enabled this patient to lead a normal life despite the syndrome. Qassim Uninversity 2017 /pmc/articles/PMC5654191/ /pubmed/29085273 Text en Copyright: © International Journal of Health Sciences 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
Kalanjiam, Vidhya
Manoharan, G. V. Murali Gopika
Crouzon syndrome - A rare case report
title Crouzon syndrome - A rare case report
title_full Crouzon syndrome - A rare case report
title_fullStr Crouzon syndrome - A rare case report
title_full_unstemmed Crouzon syndrome - A rare case report
title_short Crouzon syndrome - A rare case report
title_sort crouzon syndrome - a rare case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654191/
https://www.ncbi.nlm.nih.gov/pubmed/29085273
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