A Case of Late Diagnosis with Rubinstein-Taybi Syndrome

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.

Keywords

• Rubinstein-Taybi syndrome,Developmental Disability,Early Diagnosis

Geç Tanılı Rubinstein-Taybi Sendromlu Bir Olgu

Öz

Rubinstein-Taybi Sendromu (RSTS) karakteristik yüz bulguları, kısa boy, orta-ağır entelektüel yetersizlik, geniş el ve ayak başparmakları ile seyreden nadir bir genetik hastalıktır. Hastaların yaşamlarının ilk yıllarında karşılaştıkları problemlere doğru ve daha çözümcül yaklaşılabilmesi için tanının erken konulabilmesi oldukça önemlidir. Bu yazıda geç tanılı RSTS’li bir olgu sunulmaktadır.

Anahtar Kelimeler

• Rubinstein-Taybi Sendromu,Gelişim Geriliği

Kaynakça

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