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A: A 15-year-old female with Rett syndrome. B: The patient presented a rigid right thoracic 120°curve.
Source publication
Spine deformity can be idiopathic (more than 80% of cases), neuromuscular, congenital or neurofibromatosis-related. However, there are many disorders that may also be involved. We present our experience treating patients with scoliosis or other spine deformities related to rare clinical entities.
A retrospective study of the records of a school-scr...
Citations
... A spine deformity, such as kyphosis and idiopathic scoliosis, is an abnormality in the spine curvature. Diseases instigated by spinal stenosis, spondylolisthesis, and vertebral fractures, also result in spine deformity [2]. Spine deformity limits daily life activities and can damage the musculoskeletal, respiratory, and nervous systems [1]. ...
Spinal deformity is an abnormality in the spinal curves and can seriously affect the activities of daily life. The conventional way to treat spinal deformities, such as scoliosis, kyphosis, and spondylolisthesis, is to use spinal orthoses (braces). Braces have been used for centuries to apply corrective forces to the spine to treat spinal deformities or to stabilize the spine during postoperative rehabilitation. Braces have not modernized with advancements in technology, and very few braces are equipped with smart sensory design and active actuation. There is a need to enable the orthotists, ergonomics practitioners, and developers to incorporate new technologies into the passive field of bracing. This article presents a review of the conventional passive braces and highlights the advancements in spinal orthoses in terms of improved sensory designs, active actuation mechanisms, and new construction methods (CAD/CAM, three-dimensional (3D) printing). This review includes 26 spinal orthoses, comprised of passive rigid/soft braces, active dynamics braces, and torso training devices for the rehabilitation of the spine.
... Males and females are affected equally. 2 KS is characterized by moderate to severe developmental delay/intellectual disability, distinct facial features (shape of the eyebrows, midface hypoplasia) and (childhood) hypotonia. 3,4 Motor development in particular is impaired by childhood hypotonia, but almost all individuals achieve independent walking within 2e7 years. 3 Physical therapy is recommended to maximize mobility and to reduce the risk for later-onset orthopedic complications. 2 The aim of this study is to present the first case of severe developmental scoliosis in a patients affected by KS treated surgically in order to prevent worsening of deformity. ...
... Spinal deformities were widely reported in many rare malformation and neuromuscular diseases like: Rett syndrome, facioscapulohumeral muscular dystrophy and Noonan syndrome. 4 Literature suggests that in these rare causes of scoliosis and spine deformity surgical treatment is often necessary to prevent the evolution of the deformity, restore the coronal and sagittal balance and allow a better quality of life. 4e6 KS is a rare condition with a prevalence of less than one in a million cases, characterized by the core clinical phenotype of mostly moderate to severe developmental delay/intellectual disability, (childhood) hypotonia and distinct facial features, comprising microcephaly, synophrys, unusual shape of the eyebrows, midface hypoplasia, protruding tongue and prognathism. ...
Spine deformities could be considered a possible manifestation of the childhood hypotonia, typical feature of Kleefstra Syndrome (KS). There is a paucity of literature describing posterior spinal fusion in the Kleefstra syndrome patient. For patients who develop severe scoliotic curve, bracing is often ineffective and surgery is recommended. We report the first corrective surgery for scoliosis in one patient with KS.
We describe a case of 13-year-old female with severe developmental scoliosis in KS. Preoperative examination showed a thoracolumbar scoliosis with left convex thoracic curve (T3-T9, 97°) and right convex thoracolumbar curve (T9-L3, 88°). Posterior correction, pedicle screw fixation and bone graft fusion T3-L5 was performed. Postoperatively, the thoracic curve was corrected to 33° while the thoracolumbar one to 26° and better standing posture was obtained. Six month follow-up images showed no loosening of the hardware. The patient is still in our follow-up program.
Scoliosis seems to be a rare evenience of the severe hypotonia of patients with KS. We report the first case of scoliosis in KS treated successfully with surgery. Corrective surgery for spinal deformity, such as scoliosis, could help in posture and improve the quality of life especially in complicated patients such as syndromic ones.
... Like most joint abnormalities in AMC, the spine abnormalities are deformations-the underlying structures were normally formed, then misshapen during intrauterine development (Hall, 2014a). These "at-birth" or essential spinal deformities may include "C"-shaped thoracolumbar scoliosis with or without associated hyperlordosis (Greggi et al., 2010;Herron, Westin, & Dawson, 1978;Soultanis et al., 2007). Babies presenting with essential spine deformities generally have severe upper and lower limbs contractures, fibro-fatty degeneration of the muscles and a more guarded potential for independent daily living and ambulation (Komolkin et al., 2017). ...
Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in‐depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus‐based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community.
... In addition, kyphoscoliosis can also be secondary to other potentially correctable causes such pain, spinal cord abnormalities, tumors (both intraspinal and extraspinal) and infections. 3 Though uncommon, kyphoscoliosis can also be secondary to congenital sternal anomalies. 1 Significant deformity in such cases would be expected not at birth or in infancy, but rather during the period of rapid sternal and vertebral growth (particularly around puberty), as is seen in our case. ...
In most cases, kyphoscoliosis is idiopathic. However, this is a diagnosis of exclusion and can be made only if no cause can be identified. Kyphoscoliosis can occur due to various causes. Isolated sternal anomalies may also cause kyphoscoliosis secondary to the bony deformity though this has not previously been reported in literature. We have reported a case of kyphoscoliosis secondary to isolated sternal hypoplasia with complete absence of bony and cartilaginous elements of the body and xiphoid process of the sternum without any associated deformities of mediastinal structures, lung parenchyma or soft tissues in a young male patient. Careful evaluation of patients with kyphoscoliosis can ensure timely diagnosis of unusual and potentially treatable causes for the same such as sternal anomalies. Addition of lateral chest radiographs to the imaging protocol for evaluation of kyphoscoliosis can play a major role in timely diagnosis of such cases.
... Therefore, a thorough examination and evaluation of the patients with scoliosis deformity has been recommended [11]. In their retrospective study of 13 patients with deformities associated with rare disorders, Soultanis et al. performed posterior instrumentation and fusion on an 18year-old male cleidocranial dysostosis patient with a rigid thoracic curve (85°) and spina bifida in the lower cervical and superior thoracic spine and reported that the patient was stable after seven years of follow-up [27]. Kobayashi et al. [28] published the clinical course and treatment outcomes of a 27-year-old female patient with cleidocranial dysostosis and spastic myelopathy due to atlanto-axial subluxation. ...
Cleidocranial dysostosis is a skeletal dysplasia inherited in an autosomal dominant manner and may lead to complications such as scoliosis and kyphosis, concurrent with various orthopedic involvements. Since concurrent spinal deformities are of progressive nature, surgical treatment may be necessary. In addition to other orthopedic problems, possible accompanying complications such as atlanto-axial subluxation, myelopathy, syringomyelia, congenital spine deformities, spondylosis, and spondylolisthesis should be kept in mind while planning for the treatment of scoliosis and kyphosis. Lengthening the use of growth-friendly systems (growing rod) in patients, like ours, with an early onset of symptoms, and performing posterior instrumentation and fusion once the spinal growth is complete will yield successful results with no complications in the middle and the long term. Further multicenter studies with more comprehensive assessments are required to find solutions to spinal problems related to this rare skeletal dysplasia.
... SEDc like MPS IVA, have anterior breaking of the vertebral bodies, short stature, normal intelligence, joint pain, hearing loss, chest abnormalities, kyphosis/gibbus, scoliosis, hip deformity, short trunk and genu valgum. While MPS IVA patients have hypermobile joints, SEDc patients have joint stiffness [185][186][187][188]. ...
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to the accumulation of specific glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS), which are mainly synthesized in the cartilage. Therefore, the substrates are stored primarily in the cartilage and its extracellular matrix (ECM), leading to a direct impact on bone development and successive systemic skeletal spondylepiphyseal dysplasia. The skeletal-related symptoms for MPS IVA include short stature with short neck and trunk, odontoid hypoplasia, spinal cord compression, tracheal obstruction, obstructive airway, pectus carinatum, restrictive lung, kyphoscoliosis, platyspondyly, coxa valga, genu valgum, waddling gait, and laxity of joints. The degree of imbalance of growth in bone and other organs and tissues largely contributes to unique skeletal dysplasia and clinical severity. Diagnosis of MPS IVA needs clinical, radiographic, and laboratory testing to make a complete conclusion. To diagnose MPS IVA, total urinary GAG analysis which has been used is problematic since the values overlap with those in age-matched controls. Currently, urinary and blood KS and C6S, the enzyme activity of GALNS, and GALNS molecular analysis are used for diagnosis and prognosis of clinical phenotype in MPS IVA. MPS IVA can be diagnosed with unique characters although this disorder relates closely to other disorders in some characteristics. In this review article, we comprehensively describe clinical, radiographic, biochemical, and molecular diagnosis and clinical assessment tests for MPS IVA. We also compare MPS IVA to other closely related disorders to differentiate MPS IVA. Overall, imbalance of growth in MPS IVA patients underlies unique skeletal manifestations leading to a critical indicator for diagnosis.
... PINE deformity, such as scoliosis and kyphosis, is characterized by an abnormal curvature in the spine. The deformity in the spine is also seen in diseases caused by spinal stenosis, spondylolisthesis, vertebral fractures and Scheuermann's disease [1]. Spine deformity limits normal activity, impacts the quality of life, and can impair respiratory, musculoskeletal and neurological functions [2,3]. ...
Spine deformity is typically treated with a brace that fits around the torso and hips to correct the abnormal curve of the spine. While bracing has been shown to curtail progression of abnormal spine curves, current braces impose several limitations due to their rigid, static, and sensor-less designs: (i) forces and moments exerted by the brace cannot be measured or modulated, and (ii) the three-dimensional stiffness of the human torso has not been characterized – these may be important factors to be considered in bracing treatment. We address these limitations using a Robotic Spine Exoskeleton (RoSE), capable of controlling the position/orientation of specific cross sections of the human torso while simultaneously measuring the forces/moments exerted on the body. Eight healthy subjects and two subjects with spine deformity participated in a study to characterize the three-dimensional stiffness of their torso. The results show that the three-dimensional stiffness of human torso can be characterized using RoSE and indicated that the spine deformities induce torso stiffness characteristics significantly different from the healthy subjects. These characteristics are curve-specific and present a pronounced asymmetry. These results open up the possibility for design of spine braces incorporating patient specific torso stiffness characteristics and potential for new interventions using dynamic modulation of three dimensional forces for spine deformity treatment.
... There is some degree of radiographic spinal involvement in nearly all reported cases, but some patients exhibit uniformly dense or uninvolved vertebral bodies [2,9,[57][58][59][60] . Despite the common presence of radiographic endplate thickening of the vertebrae in ADO, and that thoracic or lumbar scoliosis develops in 25% of cases, few reports of spinal deformity exist in the literature [9,20,56,61] . ...
While management of appendicular fractures has been well described in the setting of osteopetrosis, there is limited information on managing fractures of the axial spine. Here we present an osteopetrotic patient with multiple traumatic multiple, comminuted, unstable cervical spinal fractures managed with non-operative stabilization, and provide a review of the pathophysiology, genetic characteristics, and special considerations that must be explored when determining operative versus non-operative management of spinal injury in osteopetrosis. A PubMed query was performed for English articles in the literature published up to June 2016, and used the following search terms alone and in combination: "osteopetrosis", "spine", "fractures", "osteoclasts", and "operative management". Within four months after initial injury, treatment with halo vest allowed for adequate healing. The patient was asymptomatic with cervical spine dynamic radiographs confirming stability at four months. On four-year follow up examination, the patient remained without neck pain, and CT scan demonstrated partially sclerotic fracture lines with appropriate anatomical alignment. In conclusion, external halo stabilization may be an effective option for treatment of multiple unstable acute traumatic cervical spine fractures in patients with osteopetrosis. Given the challenge of surgical stabilization in osteopetrosis, further research is necessary to elucidate the optimal form of treatment in this select patient population.
... Adolescent idiopathic scoliosis (AIS) is the most prevalent form (80-90%). Other forms include congenital, neuromuscular, mesenchymal disorders and syndromic scoliosis [3]. A consensus statement by the American Academy of Orthopedic Surgeons (AAOS), Scoliosis Research Society (SRS), American Academy of Pediatrics (AAP) and Pediatric Orthopedic Society of North America (POSNA) recommends screening at ages 10 and 12 for girls and at age 13 or 14 for boys [4]. ...
Introduction
It has long been said that exercise-based rehabilitation for scoliosis is ineffective, however, these reports studied general exercises. This case report is a prospective one-year follow-up of a nearly skeletally mature adolescent female (Risser 4) with idiopathic scoliosis treated with Pattern-Specific-Scoliosis Rehabilitation (PSSR).
Methods
The 15-year old patient recommended for surgery (initial Cobb angle of 45°) completed a 16-hour scoliosis-specific back school (according to Schroth Best Practice®), over the course of five weeks. She continued with her program at home, and followed up with the lead author after 6 months and 1 year.
Results
The patient achieved a 13° reduction in her primary thoracic Cobb angle. Postural improvement and reduction in trunk rotation (ATR) was also achieved (-4° in the thoracic spine, and -5° in the lumbar spine).
Conclusion
Pattern-specific scoliosis rehabilitation (PSSR) works to reduce the asymmetrical load caused by scoliosis. PSSR is effective in stabilizing Cobb angle, and can, in some cases, reduce Cobb angle in adolescents. Patients recommended for surgery may be candidates for conservative treatment. This case suggests that the practice of discontinuing conservative treatment at Risser stage 4 should be re-evaluated.
... The thoracic and thoracolumbar spine deformities are the most in scoliosis, with a possibility of either one or both parts being affected. Often, scoliosis of the thoracolumbar spine is combined with contractures in hip joints and pelvic distortion [21]. According to D.S. Drummond and D.A. Mackenzie, most patients with arthrogryposis and scoliosis have a C-shaped arch in neuromuscular scoliosis [12]. ...
... According to D.S. Drummond and D.A. Mackenzie, most patients with arthrogryposis and scoliosis have a C-shaped arch in neuromuscular scoliosis [12]. K.C. Soultanis et al. also noted extensive paralytic deformities in a number of patients [21]. N. Astur et al. found that the arch is usually localized at the Th 5 -L 2 level [13]. ...
The reported incidence of scoliosis in patients with arthrogryposis varies greatly between 2,5% and 69%. Curves can progress quickly. The most typical localizations of scoliosis are the thoracic and the thoracolumbar parts of the spine. In some cases, thoracolumbar scoliosis is combined with contractures in the hip and pelvis oblique. Scoliosis in children with arthrogryposis, as opposed to limb abnormalities, is generally rarely diagnosed at birth. The diagnosis is often established at the age of 5 years and can be explained by a period of rapid spine growth. The poor prognostic signs that determine the rapid development of scoliosis include progression at an early age, paralytic deformity, and pelvis oblique. Treatment options include spine casting, bracing, expandable implant surgery, and spinal fusion. The treatment goal is to allow optimal growth and development of the chest and a well-balanced spine. This article analyzes the modern approach to treatment scoliosis in patients with arthrogryposis.
