A Case of Late Diagnosis with Rubinstein-Taybi Syndrome

Objective & Hypothesis:Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder, characterized by distinctive facial features, short stature, moderate to severe intellectual disability, and broad thumbs and first toes.

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Key Findings & Data:It is important to establish an early diagnosis for these patients in order to ascertain accurate solutions for the problems they face in the early stages of life.

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Conclusion & Impact:In this report, we present a case with a late diagnosis of RSTS.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder, characterized by distinctive facial features, short stature, moderate to severe intellectual disability, and broad thumbs and first toes. It is important to establish an early diagnosis for these patients in order to ascertain accurate solutions for the problems they face in the early stages of life. In this report, we present a case with a late diagnosis of RSTS.

Özet

Rubinstein-Taybi Sendromu (RSTS) karakteristik yüz bulgulari, kisa boy, orta-ağir entelektüel yetersizlik, geniş el ve ayak başparmaklari ile seyreden nadir bir genetik hastaliktir. Hastalarin yaşamlarinin ilk yillarinda karşilaştiklari problemlere doğru ve daha çözümcül yaklaşilabilmesi için taninin erken konulabilmesi oldukça önemlidir. Bu yazida geç tanili RSTS'li bir olgu sunulmaktadir.

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Cite This Article

AYDIN, H., ÇETİNKAYA, A., KARAMAN, A., MUTLU, M. B., AYDIN, Ü. T. (2017). A Case of Late Diagnosis with Rubinstein-Taybi Syndrome. Zeynep Kamil Tıp Bülteni, Cilt: 48 - Sayı: 2, 60–62. https://ajindex.com/articles/335249

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