Abstract :
Rubinstein-Taybi Syndrome is a rare genetic disorder with characteristic featuresincluding 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 syndromeis sporadic in nature and has been linked to microdeletion at 16p 13.3 encoding CREB-binding protein gene (CREBBP). We report a 6-month-old male, who has congenital talipus equino varus, with downward slanting palpebral fissures towardthe ears, hypertelorism, short stature, beaked nose, micrognathia, large toes and broad thumbs.
Keyword :
Rubinstein-Taybi Syndrome (RSTS), Broad thumb and halluces, CTEV