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

Rubinstein Taybi syndrome (RTS) is a rare genetic condition caused by mutation or deletion in the CREBBP and/or EP300 gene located on chromosome 16. It characterized short stature, moderate to severe learning difficulties, distinctive facial features and broad thumbs toes. occurs estimated 1 1,25000 3,00000 births. Diagnosis mainly depends upon presence of features, abnormal facies, abnormaliti...

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...