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Journals / Bakırköy Tıp Dergisi / 2011 / Cilt: 7 - Sayı: 3

Oro-facio-digital syndrome type 1: case report

Oro-fasio-dijital sendrom tip 1: olgu sunumu

Ali KARAMAN
Hasan KAHVECİ
ÇAYIR Yasemin BIYIK
Pages
119–121
DOI
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AI Summary & Key Takeaways

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

Being a rare entity, this paper presents a case of OFDS 1.

📌 3 Key Takeaways

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Objective & Hypothesis: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).
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Key Findings & Data:OFDS 1 is an X-linked dominant condition.
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Conclusion & Impact:Being a rare entity, this paper presents a case of OFDS 1.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

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.

Özet

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 sunulmuştur.

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Cite This Article

KARAMAN, A., KAHVECİ, H., BIYIK, Ç. Y. (2011). Oro-facio-digital syndrome type 1: case report. Bakırköy Tıp Dergisi, Cilt: 7 - Sayı: 3, 119–121. https://ajindex.com/articles/129416

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References (12)

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