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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,...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Qassim Uninversity
2017
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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. |
format | Online Article Text |
id | pubmed-5654191 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Qassim Uninversity |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT kalanjiamvidhya crouzonsyndromeararecasereport AT manoharangvmuraligopika crouzonsyndromeararecasereport |