Official publication of Magadh University and Kolhan University, Government of Bihar and Jharkhand, India
Year : 2021
Volume : Volume 12
Issue : Issue 6
Address for correspondence :
Dr. Suhani Gupta
gsuhani23@gmail.com
Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this review, we summarized the clinical
features and genetic basis of RSTS and highlighted areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS.
Keywords: Broad Thumb-Hallux syndrome, Hypodontia, Rubinstein-Taybi syndrome.