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Congenital scoliosis

Erika Roddy, Mohammad Diab
BACKGROUND CONTEXT: Short-term readmission rates are becoming widely utilized as a quality and performance metrics for hospitals. Data on unplanned short-term readmission after spine fusion for deformity in pædiatric patients is limited. PURPOSE: To characterize the rate and risk factors for short-term readmission after spine fusion for deformity in pædiatric patients. STUDY DESIGN: Retrospective cohort study PATIENT SAMPLE: State In-Patient Databases from NY, UT, NE, FL, NC (years 2006-2010) and CA (years 2006-2011)...
October 17, 2016: Spine Journal: Official Journal of the North American Spine Society
Mohammad R Boroumand, M Yashar S Kalani, Robert F Spetzler
CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and scoliosis/skeletal/spinal anomalies) syndrome is a congenital and almost exclusively pediatric syndrome associated with vascular malformations of the neuroaxis. We report the case of a complex spinal arteriovenous fistula in an adult woman with CLOVES syndrome treated using a multidisciplinary approach with endovascular embolization and microsurgical technique, and review the medical literature on this disease.
October 8, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Thashi Chang, Judith Cossins, David Beeson
BACKGROUND: Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically diagnosed cases. We report a rare CHRNE gene mutation in a South Asian female with CMS. CASE PRESENTATION: A 17-year-old Maldivian female presented with bilateral partial ptosis, fatigable proximal muscle weakness and slurring of speech noted since the age of 2 years...
October 7, 2016: BMC Neurology
Jung-Min Hong, Hyeon Jeong Lee, Eun Soo Kim, Hae-Kyu Kim, Soeun Jeon, Hyae-Jin Kim
Proteus syndrome (PS) is a rare congenital hamartomatous disorder with multisystem involvement. PS shows highly clinical variability due to overgrowth of the affected areas, and several features can make anesthetic management challenging. Little is known about the airway problem associated with anesthesia in PS patients. An 11-year-old girl with PS was scheduled for ear surgery under general anesthesia. She had features complicating intubation including facial asymmetry and disproportion, abnormal teeth, limitation of neck movement due to torticollis, and thoracolumbar scoliosis...
October 2016: Korean Journal of Anesthesiology
Mouna Sghir, Mohamed Guedria, Marwa Maraoui, Wafa Haj Hamad, Wafa Said, Saida Jerbi, Wassia Kessomtini
OBJECTIVE: The femur aplasia is a congenital developmental defect of the femur often associated with malformations of the pelvis and lower limb. There are all intermediaries between the short femur and vestigial femoral. The total femur absence (agenesis) is rare. We report a case of a child followed in our Physical Medicine Department for proximal bilateral femoral agenesis. OBSERVATIONS: This is M.S., a 5 years old child, addressed for a waddling gait and a deformation of the trunk...
September 2016: Annals of Physical and Rehabilitation Medicine
Babar Kayani, Mathew David Sewell, Johnson Platinum, Andre Olivier, Timothy W R Briggs, Deborah M Eastwood
BACKGROUND: Congenital indifference to pain with anhidrosis (CIPA) is a rare hereditary neuropathy, which is associated with defective sensation to noxious stimuli and autonomic dysfunction. The objective of the study was to report on the orthopaedic manifestations of this condition and provide an evidence-based approach for management. METHODS: Retrospective review of 14 consecutive patients with CIPA referred to a single tertiary centre. Mean age of diagnosis was 2...
September 6, 2016: European Journal of Paediatric Neurology: EJPN
Sharon Anderson, Susan Sklower Brooks
BACKGROUND: CLOVES (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi Scoliosis, Skeletal, Spinal) syndrome is an extremely rare, complex, non-Mendelian genetic condition with clinical overlap to several other overgrowth syndromes. PURPOSE: This article shares an interesting case report of the prenatal to postnatal diagnostic course for an infant with this condition. CASE FINDINGS/RESULTS: It shares prenatal and postnatal images and imaging studies which helped confirm the diagnosis...
September 8, 2016: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
Justin C Paul, Baron S Lonner, Shaleen Vira, David Feldman, Thomas J Errico
STUDY DESIGN: Retrospective cohort study of spine fusion surgery utilizing the New York State Inpatient Database. OBJECTIVE: The objective was to determine whether there were differences in reoperation rates among pediatric scoliosis associated with various etiologies compared with idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: The incidence of postoperative complications and reoperations is known to vary among patients with diverse scoliosis pathologies...
September 3, 2016: Journal of Pediatric Orthopedics
Jianwei Guo, Jianguo Zhang, Shengru Wang, Hai Wang, Yanbin Zhang, Yang Yang, Xinyu Yang, Lijuan Zhao
BACKGROUND: Posterior hemivertebra resection has become a safe and effective procedure for congenital scoliosis due to hemivertebra. However, there are still complications following primary posterior hemivertebra resection in recent reports. No risk factors associated with construct/implant related complications were identified so far. The purpose of this study is to analyze complications following primary posterior hemivertebra resection and to investigate the possible risk factors associated with construct/implant related complications in congenital scoliosis cases due to hemivertebra...
2016: BMC Musculoskeletal Disorders
Jamal McClendon, Timothy R Smith, Patrick A Sugrue, Sara E Thompson, Brian A O'Shaughnessy, Tyler R Koski
OBJECTIVE: To evaluate spinal implant density and proximal junctional kyphosis (PJK) in adult spinal deformity (ASD). METHODS: Consecutive ASD patients receiving >5 level fusions were retrospectively analyzed between 2007 and 2010. INCLUSION CRITERIA: ASD, elective fusions, minimum 2-year follow-up. EXCLUSION CRITERIA: Age < 18 years, neuromuscular or congenital scoliosis, cervical or cervicothoracic fusions, non-elective conditions (infection, tumor, trauma)...
August 12, 2016: World Neurosurgery
Goran Rakić, Danica Stanić, Anna Uram Benka, Marina Pandurov, Jovana M Simin, Biljana Drasković
INTRODUCTION: Children who are subjected to surgical treatment for scoliosis usually end up receiving a lot of blood transfusions since they tend to lose one or more blood volumes during the surgery. Tranexamic acid is an antifibrinolytic agent, increasingly used in children to reduce perioperative blood loss in various settings, including corrective surgery of scoliosis. CASE REPORT: A 12-year-old girl, weighing 44 kg, was admitted to our hospital for scoliosis correction...
March 2016: Medicinski Pregled
D Ovejero, Y H Lim, A M Boyce, R I Gafni, E McCarthy, T A Nguyen, L F Eichenfield, C M C DeKlotz, L C Guthrie, L L Tosi, P S Thornton, K A Choate, M T Collins
: Cutaneous skeletal hypophosphatemia syndrome (CSHS), caused by somatic RAS mutations, features excess fibroblast growth factor-23 (FGF23) and skeletal dysplasia. Records from 56 individuals were reviewed and demonstrated fractures, scoliosis, and non-congenital hypophosphatemia that in some cases were resolved. Phosphate and calcitriol, but not skin lesion removal, were effective at controlling hypophosphatemia. No skeletal malignancies were found. PURPOSE: CSHS is a disorder defined by the association of epidermal and/or melanocytic nevi, a mosaic skeletal dysplasia, and an FGF23-mediated hypophosphatemia...
August 6, 2016: Osteoporosis International
Yong Yang, Bing-Qiang Wang, Zhi-Hong Wu, Hai-Yan Zhang, Gui-Xing Qiu, Jian-Xiong Shen, Jian-Guo Zhang, Yu Zhao, Yi-Peng Wang, Qi Fei
Genetic etiology hypothesis is widely accepted in the development of congenital scoliosis (CS). The delta-like 3 (DLL3) gene, a member of the Notch signaling pathway, was implicated to contribute to human CS. In this study, a case-control association study was conducted to determine the association of single nucleotide polymorphism (SNP) in the DLL3 gene with CS in a Chinese Han Population. Five known tagging SNPs of the DLL3 gene were genotyped among 270 Chinese Han subjects (128 nonsyndromic CS patients and 142 matched controls)...
July 2016: Medicine (Baltimore)
Ozgur Dede, Peter F Sturm
PURPOSE: Body casts have a long history in the treatment of spinal deformity. Currently the use of body casts is limited to early onset scoliosis. Here, we aim to provide a brief narrative of the evolution of cast application for the management of spinal deformity. METHODS: A history of cast application is provided with a brief review of the orthopedic literature. The current indications for cast application and the authors' preferred technique are described. RESULTS: Serial casting is an effective treatment method for early onset scoliosis...
October 2016: Journal of Children's Orthopaedics
Felipe Ruiz-Botero, Harry Pachajoa
BACKGROUND: Genetic disorders are a major cause in the etiology of cases with intellectual disability; however, analysis by a conventional technique such as cytogenetic karyotyping only allows the detection of chromosomal alterations in approximately 9.5 % of cases. The inclusion of new technologies such as high resolution microarray analysis has allowed the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to an increase in the diagnosis of these patients of up to 25 %...
2016: Journal of Medical Case Reports
Jaspreet Johal, Marios Loukas, Christian Fisahn, Jens R Chapman, Rod J Oskouian, R Shane Tubbs
PURPOSE: The purpose of this paper was to comprehensively review hemivertebrae in regard to their classification, embryology, etiology, diagnosis, clinical manifestations, and management of this developmental anomaly. METHODS: This subject review of hemivertebrae was composed after conducting a thorough review of the available literature on this topic using PubMed and other standard search engines. RESULTS: Hemivertebrae are incomplete vertebral column segments that can result in congenital scoliosis and be associated with a range of other structural anomalies...
July 23, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Kee-Yong Ha, Seung-Woo Suh, Young-Hoon Kim, Sang-Il Kim
PURPOSE: The objective of this study is to report the progression of congenital hyperlordoscoliosis in a 2-year-old patient and the use of multiple surgical interventions in the treatment of hyperlordoscoliosis of the thoracic spine. METHODS: A 2-year-old patient with thoracic hyperlordosis underwent observation for 1 year. To halt the progression of hyperlordosis, a posterior laminectomy was carried out to remove all the fused segments. Despite surgery, lordosis progressed via spontaneous autofusion with development of scoliosis with unilateral unsegmented bar...
July 18, 2016: European Spine Journal
Antonio Martinez-Lopez, Gonzalo Blasco-Morente, Israel Perez-Lopez, Jose David Herrera-Garcia, Maria Luque-Valenzuela, Daniel Sanchez-Cano, Juan Carlos Lopez-Gutierrez, Ricardo Ruiz-Villaverde, Jesus Tercedor-Sanchez
Overgrowth syndromes are characterized by global or localized disproportionate growth associated with other anomalies, including vascular malformations and neurological and/or visceral disorders. CLOVES (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, Scoliosis/Skeletal and spinal anomalies) is an overgrowth syndrome caused by mosaic activating mutation in gene PIK3CA, which gives rise to abnormal PI3K-AKT-mTOR pathway activation...
July 18, 2016: Clinical Genetics
John H T Waldhausen, Greg Redding, Klane White, Kit Song
PURPOSE: This report describes complications using the vertical expandable prosthetic titanium rib (VEPTR) for thoracic insufficiency syndrome (TIS) at a single center. METHODS: This is a prospective cohort evaluating 65 patients with rib-rib and rib-spine VEPTR devices for TIS placed between 10/2001 and 11/2014, for children with spinal or chest wall deformity. Patients were classified using the early onset scoliosis classification system (C-EOS). RESULTS: 65 patients are available for follow up...
June 26, 2016: Journal of Pediatric Surgery
Dino Samartzis, Prakasam Kalluri, Jean Herman, John P Lubicky, Francis H Shen
BACKGROUND: It has been propagated that patients with Klippel-Feil syndrome (KFS) exhibit "clinical triad" findings (CTFs), known as a short neck, low posterior hairline, and limited cervical range of motion (ROM). However, the literature has noted that up to 50 % of KFS cases may not present with such findings and the reasoning behind such assertions remains speculative. As such, the following study addressed the association between CTFs to that of congenitally-fused cervical segments and other risk factors in KFS patients...
2016: Scoliosis and Spinal Disorders
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