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Posterior spinal instrumented fusion remains the mainstay treatment for adolescent idiopathic scoliosis (AIS) with acceptable post-operative patient satisfaction. However, in Saudi Arabia, patient satisfaction after surgical management for AIS has not been thoroughly studied. The purpose of this study was to determine patient satisfaction and quality of life using the Scoliosis Research Society-22r (SRS-22r, the most recent version) questionnaire after surgical correction of AIS in Saudi Arabia.A retrospective study was conducted that included patients who underwent posterior spinal instrumented fusion for AIS from January 1995 through December 2015. We included 115 patients (both males and females) in our study. We used the Arabic version of the SRS-22r questionnaire that was completed through telephonic interviews. Data collected were then analyzed using SPSS Statistics, version 23.The mean age of our patients at the time of surgery was 15.0 ± 2.6 years and the average time from surgery to interview was 9.4 ± 4.7 years. A positive response was recorded in all domains including pain, function, mental health, and self-image. Furthermore, 76.5% of the patients were satisfied with their management outcome and 81.7% of the patients reported no complications.Surgical correction of AIS improved the quality of life of our patients that was assessed using the Arabic version of the SRS-22r questionnaire. Apart from overall patient satisfaction, positive responses were recorded in all four domains of the SRS-22r questionnaire.

Introduction For Sprengel deformity, a variety of operations are available, with Woodward's procedure being a favorable option with good outcomes. This study aims to assess the outcomes of Woodward's procedure with brachial plexus monitoring to prevent the possible complications of nerve injury and consequent deficits. Methods In our study, we included 18 patients with Sprengel deformity treated with Woodward's procedure using intraoperative neuromonitoring for the brachial plexus from 2013 to 2019 at our institute. For each patient, we collected information about age, gender, follow-up duration, affected shoulder side, and presence of an omovertebral bar. Also, preoperative and postoperative degrees of shoulder abduction, Cavendish grade of cosmetic appearance, Rigaults grade, and difference in scapular elevation along with postoperative complications were all measured to evaluate the outcomes. Results The mean duration of follow-up was 12 months. The average preoperative Cavendish grade was 3.1, which decreased to 1.3 on the final follow-up. The average preoperative Rigault grade was 2.5, which has decreased to an average of 1.8. The average increase in the degree of shoulder abduction postoperatively was 48.3°. The average preoperative difference in scapular height (mm) was 26.9, which decreased to an average of 12.2. Furthermore, the final outcome was not impacted by the absence or the existence of the omovertebral bar. Conclusion Woodward's procedure using intraoperative neuromonitoring without clavicle osteotomy for Sprengel's deformity successfully corrects the deformity and decreases the risk of iatrogenic brachial plexus injury.

Highlights • Amelia has been associated with idiopathic scoliosis in non-syndromic patients. • VEPTR device use in management was chosen as a definitive treatment in order to preserve spinal range of motion. • Up to our knowledge there is no consensus on the definitive treatment of scoliosis with congenital limb agenesis patients., Introduction Congenital upper limb Amelia is one of the extremely rare conditions in the world. Defined as complete absence of a limb which may present as isolated defect or as a part of syndrome with associated anomalies. Presentation of the case We report a case of a medically free 6-year-old boy with bilateral upper limb Amelia associated with right thoracolumbar idiopathic Scoliosis. Discussion Treatment for early onset scoliosis includes either posterior spinal fusion and instrumentation, or Vertical Expandable Prosthetic Titanium Rib (VEPTR). The choice of care for our patient was decided to be VEPTR alone as definitive management. Up to our knowledge, there are very scanty articles published regarding treatment for such cases. Conclusion Patient underwent vertical expandable prosthetic titanium rib (VEPTR) application for his large 45-degree curve as a definitive treatment and still have his preoperative physical functions, in terms of using lower limbs in daily living activities.

Mullerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia (MURCS) association is a rare syndrome. This unique condition consists of Mullerian duct aplasia, cervicothoracic somite dysplasia, and renal aplasia, and skeletal abnormalities manifesting in childhood. We report the case of a 14-year-old girl who presented to the orthopedic clinic with spinal deformity and Sprengel’s shoulder complicated by a background of MURCS association. The treatment modalities of scoliosis include posterior spinal fusion and the vertical expandable prosthetic titanium rib. On the other hand, Sprengel’s deformity is surgically managed by Woodward’s procedure. The management plan for our patient involved correcting scoliosis by the posterior spinal fusion procedure and performing Woodward’s procedure to correct Sprengel’s deformity simultaneously. Simultaneous scoliosis correction with posterior spinal instrumented fusion and Sprengel's deformity correction with modified Woodward’s procedure is a promising surgical technique that can lead to favorable outcomes.

Introduction: In congenital anomalies of the thoracic spine, fusion in situ and hemi-epiphysiodesis are unsuitable surgical options, because three-dimensional thoracic deformity and insufficiency are uncorrectable. We aimed to evaluate the radiological outcome of vertical expandable titanium rib (VEPTR) application after follow-up in children with congenital scoliosis with or without rib fusion. Methods: In our study, we included 58 patients with congenital scoliosis with or without fused ribs; all treated with VEPTR from 2005 to 2015 at our institute. There were 19 males and 39 females. For each patient, we collected information about age at the index surgery (VEPTR application) and the total number of VEPTR lengthening procedures. Also, Cobb angle, kyphotic angle, thoracic height, and spinal height were measured on preoperative radiographs, immediately post-operative, two years post-operative, and at final follow-up. Results: The mean duration of follow-up was five years (range, 2-12 years). Twenty-eight patients had rib-to-pelvis type VEPTR, 20 patients had rib-to-rib type VEPTR, and 10 patients had a rib to pedicle/lamina type of VEPTR implant. Post-VEPTR, 63.8% of our patients reported one or more complications. The immediate post-VEPTR application showed that the mean Cobb angle decreased to 43.56° with a percentage change of 22.8% (p

Background Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin glycosyltransferase 1 (EXT1) and exostosin glycosyltransferase 2 (EXT2). The genetic defects have not been studied in the Saudi patients. Aim of study We investigated mutation spectrum of EXT1 and EXT2 in 22 patients from 17 unrelated families. Methods Genomic DNA was extracted from peripheral leucocytes. The coding regions and intron–exon boundaries of both EXT1 and EXT2 genes were screened for mutations by PCR-sequencing analysis. Gross deletions were analyzed by MLPA analysis. Results EXT1 mutations were detected in 6 families (35%) and 3 were novel mutations: c.739G > T (p. E247*), c.1319delG (p.R440Lfs*4), and c.1786delA (p.S596Afs*25). EXT2 mutations were detected in 7 families (41%) and 3 were novel mutations: c.541delG (p.D181Ifs*89), c.583delG (p.G195Vfs*75), and a gross deletion of approximately 10 kb including promoter and exon 1. Five patients from different families had no family history and carried de novo mutations (29%, 5/17). No EXT1 and EXT2 mutations were found in the remaining four families. In total, EXT1 and EXT2 mutations were found in 77% (13/17) of Saudi HME patients. Conclusion EXT1 and EXT2 mutations contribute significantly to the pathogenesis of HME in the Saudi population. In contrast to high mutation rate in EXT 1 (65%) and low mutation rate in EXT2 (25%) in other populations, the frequency of EXT2 mutations are much higher (41%) and comparable to that of EXT1 among Saudi patients. De novo mutations are also common and the six novel EXT1/EXT2 mutations further expands the mutation spectrum of HME.

Background Synovial sarcoma (SS) is one of the reported sarcomas in the pediatric and adult populations. Delay in diagnosis and treatment is common in SS cases. SS may be excised before the correct diagnosis is made. Case presentation we present a case involving a 4-year-old boy who visited our service with complaints of left knee pain and limited knee flexion. Initially, the child was diagnosed with osteochondromatosis. Surgical excision was opted, and initial histopathological examination revealed a fibrous histiocytoma. The slide and blocks were then brought to the King Faisal Specialist Hospital Research Center (KFSH&RC) and histopathologic analysis has shown a well-circumscribed nodule in the synovium with a sub-synovial monomorphic spindle cell sarcoma, confirmed by fluorescence in situ hybridization (FISH). Conclusions Therefore, we strongly recommend considering all differential diagnoses for soft-tissue masses when planning surgical management.