Case Report

Year : 2021

Volume : Volume 12

Issue : Issue 6

Rubinstein-Tayabi Syndrome: A Rare Case Report

Dr. Suhani Gupta

Address for correspondence :
Dr. Suhani Gupta
gsuhani23@gmail.com

Abstract


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.