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Introduction: Rubinstein-Taybi syndrome is an autosomal dominant disorder resulting in congenital craniofacial deformities, and divided into types 1 and 2. Scoliosis has not been reported as one of the extra-cranial manifestations of Rubinstein-Taybi syndrome type 2. Case presentation: We present a 14-year-old British Caucasian girl with Rubinstein-Taybi type 2 syndrome who developed a severe double thoracic scoliosis measuring 39° and 68° respectively. Her scoliosis was associated with thoracic hypokyphosis, causing a marked reduction in the anteroposterior diameter of her chest and consequent severe restrictive lung disease. The deformity was noted by her local pediatrician as part of a chest infection assessment when she was aged 13 years, and gradually progressed as the result of spinal growth. Our patient underwent a posterior spinal arthrodesis using a single concave pedicle hook and screw rod construct and locally harvested autologous graft supplemented by allograft bone. This spinal fixation technique was selected because of our patient's low body weight to avoid prominence of the instrumentation causing skin healing problems and pain. Her scoliosis was corrected to 18° and 30° and we achieved a balanced spine in the coronal and sagittal planes. An underarm spinal jacket was provided for six months after surgery. During her latest follow-up at skeletal maturity, our patient had an excellent cosmetic outcome with no loss of deformity correction or detected pseudoarthrosis and a normal level of activities. Conclusion: Scoliosis can develop in young children with Rubinstein-Taybi syndrome type 2, with the deformity deteriorating around the pubertal growth spurt. Surgical treatment can correct the deformity, balance the spine and prevent mechanical back pain. It can also stabilize the chest area and avoid respiratory complications developing as the scoliosis progresses, which can result in severe restrictive pulmonary disease. The use of single concave instrumentation is indicated in very slim patients with poor muscle bulk; in our patient, this produced satisfactory deformity correction and a favorable outcome at completion of growth. Peri-operative care in this group of patients can be very challenging because of associated co-morbidities as well as the presence of severe behavioral issues that result in poor patient compliance.
Bounakis, N., Karampalis, C., Sharp, H., & Tsirikos, A. I. (2015). Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: A case report. Journal of Medical Case Reports, 9(1). https://doi.org/10.1186/1752-1947-9-10