Clinical characteristics of Crouzon syndrome.
| Autor: | Balyen L; Department of Ophthalmology, Baglar Hospital, Diyarbakir, Turkey., Deniz Balyen LS; Department of Internal Disease, Diyarbakir Selahaddin Eyyubi State Hospital, Diyarbakir, Turkey., Pasa S; Department of Internal Disease, Baglar Hospital, Diyarbakir, Turkey. |
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| Jazyk: | angličtina |
| Zdroj: | Oman journal of ophthalmology [Oman J Ophthalmol] 2017 May-Aug; Vol. 10 (2), pp. 120-122. |
| DOI: | 10.4103/0974-620X.209111 |
| Abstrakt: | 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. Competing Interests: There are no conflicts of interest. |
| Databáze: | MEDLINE |
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