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Journals / Causapedia / 2018 / Cilt: 7 - Sayı: 3

Crouzon Syndrome with Multiple Anomalies: A Case Report

Birçok Anomalili Crouzon Sendromu: Bir Olgu Sunumu

HALİL KAZANASMAZ
MUSTAFA ÇALIK
Journal
Causapedia
Pages
144–147
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this study, a case with Crouzon syndrome and multiple anomalies was presented because of its rarity.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Crouzon syndrome, also known as craniofacial dysostosis, is an autosomal dominant congenital syndrome that affects the skull and facial bones.
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Key Findings & Data:Genetic defect resulting from FGFR-2(fibroblast growth factor receptor 2) gene mutation is the clinical result.
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Conclusion & Impact:In this study, a case with Crouzon syndrome and multiple anomalies was presented because of its rarity.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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.

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.

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Cite This Article

KAZANASMAZ, H., ÇALIK, M. (2018). Crouzon Syndrome with Multiple Anomalies: A Case Report. Causapedia, Cilt: 7 - Sayı: 3, 144–147. https://ajindex.com/articles/145845

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References (2)

  1. Lin Y, et al. FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. Mol Med Rep. 2017; 16: 5841-46.
  2. Ahmed I, Afzal A. Diagnosis and evaluation of Crouzon syndrome. J Coll Physicians Surg Pak. 2009; 19: 318-20. T. Maeda, et al. Clinically mild, atypical, and aged craniofacial syndrome is diagnosed as Crouzon syndrome by identification of a point mutation in the fibroblast growth factor receptor 2 gene (FGFR2). Internal Medicine. 2004;43 (5): 432-5. Kaushik A, et al. Crouzon's Syndrome: A Rare Genetic Disorder. Int J Clin Pediatr Dent. 2016;9(4):384-7. Qiao T, et al. Surgical Treatment of V-pattern Exotropia in Crouzon Syndrome. J Pediatr Ophthalmol Strabismus. 2015;52(5):299–304. Priyadharshini R, et al. A cross-sectional study of cardiac anomalies among children with orofacial cleftrole of echocardiography. Int J Contemp Pediatr. 2017;4(4):1274-77 Renier D, et al. Management of craniosynostoses. Childs Nerv Syst. 2000;16: 645-58. Driessen C, et al. he effect of early fusion of the spheno-occipital synchondrosis on midface hypoplasia and obstructive sleep apnea in patients with Crouzon syndrome. J Craniomaxillofac Surg. 2017;45(7):1069-73.