Scoliosis: review of types, aetiology, diagnostics, and treatment 1

Baat, Paul de

doi:10.5177/ntvt.2012.10.12210

Cited by 11 publications

(10 citation statements)

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“…Scoliosis has been observed in 0.5% to 2% of the population (20-23). Our study showed that the prevalence of scoliosis could be much higher in WBS patients.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center

Damasceno¹,

Cristante²,

Marcon³

et al. 2014

Clinics

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OBJECTIVE:This study assessed the prevalence of scoliosis and the patterns of scoliotic curves in patients with Williams-Beuren syndrome. Williams-Beuren syndrome is caused by a chromosome 7q11.23 deletion in a region containing 28 genes, with the gene encoding elastin situated approximately at the midpoint of the deletion. Mutation of the elastin gene leads to phenotypic changes in patients, including neurodevelopmental impairment of varying degrees, characteristic facies, cardiovascular abnormalities, hypercalcemia, urological dysfunctions, and bone and joint dysfunctions.METHODS:A total of 41 patients diagnosed with Williams-Beuren syndrome, who were followed up at the genetics ambulatory center of a large referral hospital, were included in the study. There were 25 male subjects. The patients were examined and submitted to radiographic investigation for Cobb angle calculation.RESULTS:It was observed that 14 patients had scoliosis; of these 14 patients, 10 were male. The pattern of deformity in younger patients was that of flexible and simple curves, although adults presented with double and triple curves. Statistical analysis showed no relationships between scoliosis and age or sex.CONCLUSION:This study revealed a prevalence of scoliosis in patients with Williams-Beuren syndrome of 34.1%; however, age and sex were not significantly associated with scoliosis or with the severity of the curves.

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“…Scoliosis has been observed in 0.5% to 2% of the population (20-23). Our study showed that the prevalence of scoliosis could be much higher in WBS patients.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center

Damasceno¹,

Cristante²,

Marcon³

et al. 2014

Clinics

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“…Neuromuscular scoliosis is usually formed at a young age, but may also develop in adulthood. Its characteristic feature is a rapidly progressive curvature of the spine [2].…”

Section: Discussionmentioning

confidence: 99%

Effect of intervertebral disc disease on scoliosis in the lumbar spine

Wójcik

Piskorz

Iłżecka

et al. 2014

Current Issues in Pharmacy and Medical Sciences

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Lumbar intervertebral discopathy is a common clinical problem and a significant cause of low back pain. Usually it is associated with overload and damage to the intervertebral disc, which directly relates to the instability of the motion segment. Renal normal anatomy between tissues within the spinal canal is a cause of the reflex curvature of the spine, the goal is to increase the volume of the spinal channel and reduce the compression of the nerve tissue. Knee-jerk reaction to pain is an non physiological change of the setting of the spine in the frontal plane. The aim of the study was to establish the relationship of migration of the intervertebral disc with reflex scoliosis in the lumbar region in patients with lumbar disc herniation. Material and methods. The studies involved 78 patients aged 18-55 years with damaged intervertebral disc with annulus fibrosus of the bulge in the posterior-lateral direction. The study used multi-row spiral CT scanner. Results. In the patients, reflex lateral curvature was observed. The angle of scoliosis was measured with Cobb method; it did not exceed 10 degrees. It was also established that spontaneously the shallowing of lumbar lordosis and vertical alignment of the sacrum occured. Conclusion. The study shows that in most patients diagnosed with lateral migration of the intervertebral disc there develops a slight lateral curvature of the spine, which is a reflex reaction of axial musculoskeletal to discogenic pain.

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“…Family history is a risk factor and recent genetic advances identify several candidate loci for idiopathic scoliosis, particularly the LBX1 region as a prime susceptibility locus [5]. Congenital scoliosis is defined as a lateral spinal deformity caused during embryonic vertebral development and affects approximately 1 per 1,000 live births [6,7]. The etiology of congenital scoliosis is largely unknown and is attributed to genetic and environmental factors [8].…”

Section: Introductionmentioning

confidence: 99%

Concurrent Scoliosis and Dentofacial Anomaly: A Case Report

Bennett

Whitewood

2021

Case Rep Orthop Res

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The relationship between scoliosis, dentofacial anomaly, and malocclusion is poorly understood. We report a novel and complex pediatric case of concurrent juvenile scoliosis, dentofacial anomaly, and malocclusion, successfully treated and managed by an interdisciplinary hospital team over a 15-year period. The degree of severity of the scoliosis and dentofacial anomaly necessitates surgical intervention. Successful orthopedic surgical procedures have improved the patient’s quality of life. Future surgical correction of the dentofacial anomaly and malocclusion is necessary to improve the patient’s condition from psychosocial, aesthetic, and functional standpoints. The patient’s condition is characterized by multiple congenital abnormalities, developmental delay, seizure disorder, juvenile scoliosis, and dentofacial anomaly with malocclusion. Intriguingly, a unifying diagnosis for the patient’s condition could not be confirmed despite the indication of a syndromic cause. The collection of characteristics is suggestive of the chromosome 22q11.2 deletion syndromes (including velocardiofacial syndrome [VCFS] or DiGeorge syndrome) as possible genetic causes. Clinical genetics testing was unable to establish a diagnosis of chromosome 22q11.2 deletion, VCFS or DiGeorge syndrome. Further investigation of the genotype-phenotype relationships of scoliosis, dentofacial anomaly, and malocclusion is required to improve medical knowledge, diagnostic capability, and patient care, specifically relating to cases of undiagnosed diseases. Future research utilizing next-generation sequencing techniques is necessary to aim for precise genetic diagnosis, including knowledge of the underlying cellular and molecular mechanisms, for the development of the potential of therapeutic approaches targeting gene repair.

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Scoliosis: review of types, aetiology, diagnostics, and treatment 1

Cited by 11 publications

References 0 publications

Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center

Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center

Effect of intervertebral disc disease on scoliosis in the lumbar spine

Concurrent Scoliosis and Dentofacial Anomaly: A Case Report

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