Clinical characteristics of Crouzon syndrome
Crouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted sk...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2017-01-01
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| Series: | Oman Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.ojoonline.org/article.asp?issn=0974-620X;year=2017;volume=10;issue=2;spage=120;epage=122;aulast=Balyen |
| _version_ | 1818546972487843840 |
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| author | L Balyen L S Deniz Balyen S Pasa |
| author_facet | L Balyen L S Deniz Balyen S Pasa |
| author_sort | L Balyen |
| collection | DOAJ |
| description | Crouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. First is the release of prematurely fused sutures based on evidence of raised intracranial pressure. Surgery is mainly carried out early after 3–6 months. Second is the craniofacial reconstructive surgery including advancement of the maxilla and frontonasal complex; and other surgeries depending upon the deformities. An increased intracranial pressure impairs brain development and can lead to mental retardation. Because of the delayed diagnosis and treatment in this case, visual and hearing loses and decreased mental capacity and mild retardation. |
| first_indexed | 2024-12-12T08:00:23Z |
| format | Article |
| id | doaj.art-777a1ffa91954273bd6d84ff8f976a48 |
| institution | Directory Open Access Journal |
| issn | 0974-620X |
| language | English |
| last_indexed | 2024-12-12T08:00:23Z |
| publishDate | 2017-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Oman Journal of Ophthalmology |
| spelling | doaj.art-777a1ffa91954273bd6d84ff8f976a482022-12-22T00:32:09ZengWolters Kluwer Medknow PublicationsOman Journal of Ophthalmology0974-620X2017-01-0110212012210.4103/0974-620X.209111Clinical characteristics of Crouzon syndromeL BalyenL S Deniz BalyenS PasaCrouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. First is the release of prematurely fused sutures based on evidence of raised intracranial pressure. Surgery is mainly carried out early after 3–6 months. Second is the craniofacial reconstructive surgery including advancement of the maxilla and frontonasal complex; and other surgeries depending upon the deformities. An increased intracranial pressure impairs brain development and can lead to mental retardation. Because of the delayed diagnosis and treatment in this case, visual and hearing loses and decreased mental capacity and mild retardation.http://www.ojoonline.org/article.asp?issn=0974-620X;year=2017;volume=10;issue=2;spage=120;epage=122;aulast=BalyenCrouzon syndromecraniosynostosisFGFR2 gene mutations |
| spellingShingle | L Balyen L S Deniz Balyen S Pasa Clinical characteristics of Crouzon syndrome Oman Journal of Ophthalmology Crouzon syndrome craniosynostosis FGFR2 gene mutations |
| title | Clinical characteristics of Crouzon syndrome |
| title_full | Clinical characteristics of Crouzon syndrome |
| title_fullStr | Clinical characteristics of Crouzon syndrome |
| title_full_unstemmed | Clinical characteristics of Crouzon syndrome |
| title_short | Clinical characteristics of Crouzon syndrome |
| title_sort | clinical characteristics of crouzon syndrome |
| topic | Crouzon syndrome craniosynostosis FGFR2 gene mutations |
| url | http://www.ojoonline.org/article.asp?issn=0974-620X;year=2017;volume=10;issue=2;spage=120;epage=122;aulast=Balyen |
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