ISSN: 2149-2247 | E-ISSN: 2149-2549
Erciyes Medical Journal A Turkish Case with Craniofrontonasal Syndrome [Erciyes Med J]
Erciyes Med J. 2009; 31(4): 339-343

A Turkish Case with Craniofrontonasal Syndrome

Emriya Ferda Perçin1, Kadri Karaer1, Kemali Baykaner2
1Department of Medical Genetics Faculty of Medicine, Gazi University
2Department of Neurosurgery Faculty of Medicine, Gazi University

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.

Keywords: Craniosynostosis, Facial asymmetry, Abnormal nail

Kraniofrontonazal Sendrom'lu bir Türk olgu

Emriya Ferda Perçin1, Kadri Karaer1, Kemali Baykaner2
1Department of Medical Genetics Faculty of Medicine, Gazi University
2Department of Neurosurgery Faculty of Medicine, Gazi University

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.

Anahtar Kelimeler: Kraniosinostosis, Fasyal asimetri, Tırnak Anomalisi

Emriya Ferda Perçin, Kadri Karaer, Kemali Baykaner. A Turkish Case with Craniofrontonasal Syndrome. Erciyes Med J. 2009; 31(4): 339-343

Corresponding Author: Kadri Karaer
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