The Rubinstein-Taybi syndrome was first described in 1963. The main clinical features are mental retardation, broad thumbs and great toes, a characteristic facies, and a high-arched palate. Rubinstein and Taybi (1963) described 7 cases in the United States. Since then, small groups of patients and single examples of this syndrome have been reported in the United States (Coffin, 1964; Taybi and ...

Rubinstein–Taybi syndrome is a multisystem pathology characterized by mental retardation and delayed physical development in combination with set of phenotypic features, which make up recognizable pattern the disease. This review literature highlights molecular‑genetic basis presumed pathogenesis syndrome, considers questions geno‑phenotypic correlations differential diagnosis group pathologies...

objective 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 encodingcreb-...

A patient with Rubinstein-Taybi syndrome complicated by tetraplegia secondary to cervical spondylolisthesis is reported. The abnormalities presenting in this condition are reviewed.

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.

Rubinstein Taybi syndrome or Broad Thumb and Hallux syndrome is a genetic multisystem disorder characterized by facial dysmorphism, growth retardation and mental deficiency. A ten-year-old boy who had come to the Department of Pedodontics, Ragas Dental College, Chennai, with the chief complaint of unaesthetic appearance with extra teeth revealed delay in the developmental milestones. The patien...

This is a rare cause of mental handicap. Case finding studies in several English speaking countries have found about one case per 300 institutionalised subjects.3 Assuming that at that time about 1 per 1000 of the general population required institutionalisation the population frequency would be about 1 in 300 000. Sex ratio, j3arental ages, pregnancy history, and birth weights have been unrema...

Resection of the midzone of the continuous epiphysis of a delta phalanx (physiolysis) and its replacement by a free-fat graft from local tissue was performed to improve severe radial angulation of the both thumbs in a 22-month-old child with Rubinstein-Taybi syndrome. Fifty-two months after surgery, satisfactory results were obtained for pinch function, appearance, and radiographic findings. Pr...