Rubinstein-Taybi Syndrome; A case report

Abstract

Objective Rubinstein-Taybi Syndrome is a rare genetic disorder with characteristic features including downward slanting palpebral fissures, broad thumbs and halluces, and mental retardation. Systemic features may involve cardiac, auditory, ophthalmic, endocrine, nervous, renal and respiratory systems. This syndrome is sporadic in nature and has been linked to microdeletion at 16p 13.3 encoding CREB-binding protein gene (CREBBP). We report a 15-years-old girl, a known case of chronic renal failure, with downward slanting palpebral fissures toward the ears, hypertelorism, short stature, beaked nose, micrognathia, strabismus, dental anomalies, large toes, broad thumbs, and mental retardation.