A Case of Late Diagnosis with Rubinstein-Taybi Syndrome

Year 2017, , 60 - 62, 09.06.2017

Hatip Aydın , Arda Çetinkaya , Ali Karaman , Mehmet Burak Mutlu , Ümeyye Taka Aydın

https://doi.org/10.16948/zktipb.272969

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

Abstract

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.

Keywords

Rubinstein-Taybi Sendromu, Gelişim Geriliği

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