STUDY DESIGN Case report. OBJECTIVE The authors present the case of a 14-year-old boy with Rubinstein-Taybi syndrome (RSTS) presenting scoliosis. SUMMARY OF BACKGROUND DATA There have been no reports on surgery for RSTS presenting scoliosis. METHODS The patient was referred to our hospital for evaluation of a progressive spinal curvature. A standing anteroposterior spine radiograph at pre...

INTRODUCTION Rubinstein-Taybi syndrome is an autosomal dominant disorder resulting in congenital craniofacial deformities, and divided into types 1 and 2. Scoliosis has not been reported as one of the extra-cranial manifestations of Rubinstein-Taybi syndrome type 2. CASE PRESENTATION We present a 14-year-old British Caucasian girl with Rubinstein-Taybi type 2 syndrome who developed a severe d...

Rubinstein-Taybi syndrome is associated with intellectual and physical features. CREBBP and EP300 are causative. Few cases of EP300 mutations are reported. We report a case with mild features of RSTS and EP300 mutation on exome sequencing. This illustrates the utility of exome sequencing to expand every genetic phenotype.

Recurrent dislocation of patella may occur in patients with ligament laxity. Method of treatment in this condition is controversial but patellofemoral ligament reconstruction is the most accepted method. We present a patient with Rubinstein-Taybi syndrome and recurrent patellar dislocation who managed successfully by patellofemoral ligament reconstruction.