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Med J Bakirkoy. 2011; 7(3): 120-121

Oro-facio-digital syndrome type 1: case report

Ali Karaman, Hasan Kahveci, Yasemin Çayır Bıyık.

Oro-facio-digital syndrome (OFDS), a group of congenital anomalies, is characterized by malformations of the oral cavity (cleft palate, high arched palate, tongue lobulation, hamartoma on the tongue), face (frontal bossing, facial asymmetry, hypertelorism), and digits (syndactyly, brachydactyly, polydactyly). OFDS 1 is an X-linked dominant condition. OFDS 1 is a rare syndrome, occurring in approximately 1/250,000 live births. Being a rare entity, this paper presents a case of OFDS 1.

Key words: Oro-facio-digital syndrome 1, oral hamartoma, polydactyly

Oro-fasio-dijital sendrom tip 1: Olgu sunumu

Oro-fasio-dijital sendrom (OFDS) ağız boşluğu (yarık damak, yüksek damak, dilde lobulasyon, dilde hamartom), yüz (frontal çıkıklık, fasiyal asimetri, hipertelorizm) ve parmak anomalileri (sindaktili, brakidaktili, polidaktili) ile karakterize bir grup konjenital anomalidir. OFDS 1 X’e bağlı dominant geçer. OFDS 1 nadir bir sendromdur ve yaklaşık 1/250.000 canlı doğumda görülmektedir. Bu yazıda, nadir görülmesi nedeniyle OFDS1’li bir olgu sunulmuştu

Anahtar Kelimeler: Oro-fasio-dijital sendrom 1, oral hamartom, polidaktili

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Journal of Molecular Pathophysiology


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