Rubinstein Taybi Syndrome: Developmental Evaluation-a Case Report

Abstract

Rubinstein Taybi syndrome is a rare genetic abnormality that includes such features as facial abnormalities, broad thumbs on the hands and feet, small stature, and developmental delay (including fine and gross motor, communication, problem solving, personal-social delays). This case report represents a 12 months old male baby, was referred for his Developmental Delay, and after investigations and work up, the diagnosis confirmed as the Rubinstein Taybi Syndrome (RTS) and also, the results of developmental assessment emphasizing motor portion through the Ages and Stages Questionnaires-II (ASQ-II) and the Peabody-2 Scale (PDMSII) tests have been reviewed.

Keywords

• Rubinstein Taybi syndrome
• Developmental evaluation
• Broad thumbs and toes