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Halil Kazanasmaz
Harran Üniversitesi Tıp Fakü...
Mustafa Çalık
Harran Üniversitesi Tıp Fakü...

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Crouzon Syndrome with Multiple Anomalies: A Case Report

Crouzon Syndrome with Multiple Anomalies
Articles > Pediatrics
Submitted : 01.02.2018
Accepted : 13.09.2018
Published: 12.10.2018

Abstract

Crouzon syndrome, also known as craniofacial dysostosis, is an autosomal dominant congenital syndrome that affects the skull and facial bones. Genetic defect resulting from FGFR-2(fibroblast growth factor receptor 2) gene mutation is the clinical result. Craniosynostosis, maxillar hypoplasia, shallow orbit, ocular proptosis and hypertelorism are characteristic features of Crouzon syndrome. In this study, a case with Crouzon syndrome and multiple anomalies was presented because of its rarity.
Keywords: Anomaly , Crouzon syndrome , Gene mutation , Craniosinocytosis

Özet

Kraniofasial disostosis olarak da bilinen Crouzon sendromu, kafatası ve yüz kemiklerinin etkilendiği otozomal dominant geçişli konjenital bir sendromdur. Fibroblast büyüme faktörü reseptör -2 (FGFR-2 ) gen mutasyonuna bağlı genetik defekt sonucu klinik oluşmaktadır. Kraniosinostoz, maksillar hipoplazi, sığ orbita, oküler proptozis ve hipertelorizm, Crouzon sendromunun karakteristik özellikleridir. Bu çalışmada, Crouzon sendromu tanısı alan ve multiple anomalileri olan bir olgu, nadir görülmesi nedeniyle sunuldu.
Anahtar kelimeler: Anomali , Crouzon sendromu , Gen mutasyonu , Kraniosinositoz
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