Rubinstein-Taybi syndrome Rubinstein-Taybi sendromu
SENDROM, cilt.18, sa.11, ss.89-90, 2006 (Scopus)
- Yayın Türü: Makale / Derleme
- Cilt numarası: 18 Sayı: 11
- Basım Tarihi: 2006
- Dergi Adı: SENDROM
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.89-90
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Rubinstein-Taybi syndrome (RTS) is a rare syndrome with characteristic features that include downward sloping palphebral fissures, broad thumbs, broad big toes, growth and mental retardation. Systemic features may involve the cardiac, audiologic, ophthalmologic, endocrine, neurologic, and respiratory systems. RTS is sporadic in nature and has been linked to microdeletion at 16p13.3 encoding CREB-binding protein gene (CREBBP). Here we report a case with definitive diagnosis of RTS and review the relevant literature for this rare disorder.