A Turkish case with craniofrontonasal syndrome

Objective & Hypothesis:Craniofrontonasal syndrome is a very rare X-linked disorder characterized by abnormalities of the craniofacial area, mental deficiency, longitudinally grooved nails and various skeletal and soft tissue abnormalities.

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Key Findings & Data:Following first description of the syndrome, approximately 180 additional cases have been published in medical literature.

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Conclusion & Impact:We describe here a new female Turkish patient with craniofrontonasal syndrome and discuss the common features of previously reported cases.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Craniofrontonasal syndrome is a very rare X-linked disorder characterized by abnormalities of the craniofacial area, mental deficiency, longitudinally grooved nails and various skeletal and soft tissue abnormalities. Following first description of the syndrome, approximately 180 additional cases have been published in medical literature. We describe here a new female Turkish patient with craniofrontonasal syndrome and discuss the common features of previously reported cases.

Özet

Kraniofrontonazal sendromu, kraniofasyal anomaliler, mental gerilik, uzunlamasına çizgili tırnaklar, iskelet ve yumuşak doku anomalileri ile karakterize, X'e bağlı kalıtılan oldukça nadir görülen bir hastalıktır. Tıbbi literatürde, sendromun ilk tanımlanmasının ardından yaklaşık 180 ilave hasta yayınlanmıştır. Biz, burada kraniofrontonazal sendrom'lu yeni bir Türk kız hasta tanımladık ve daha önce yayınlanan olgularla ortak bulgularını tartıştık.

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Cite This Article

PERÇİN, E. F., KARAER, K., BAYKANER, K. (2022). A Turkish case with craniofrontonasal syndrome. Erciyes Tıp Dergisi, Cilt: 31 - Sayı: 4, 339–343. https://ajindex.com/articles/502580

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