ReviewWorld journal of methodology2025
Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.
Review in World journal of methodology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
3 authors.
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Abstract
Skeletal dysplasia includes numerous genetic disorders marked by abnormal bone and cartilage growth, causing various spinal issues. The 2023 nosology identifies 771 distinct dysplasias involving 552 genes, with achondroplasia being the most common and significantly affecting the spine. Other disorders include type II collagenopathies, sulphation defects, Filamin B disorders, and osteogenesis imperfecta, presenting with short stature, limb deformities, joint contractures, and spinal abnormalities. Spinal pathology often impacts physeal growth areas, leading to conditions like foramen magnum stenosis, atlantoaxial instability, spinal stenosis, kyphosis, and scoliosis. Non-orthopaedic symptoms can include hearing and vision loss, neurological issues like hydrocephalus, and cardiac abnormalities. The incidence is around 1 in 4000 to 5000 births, with achondroplasia at about 1 in 30000 live births. Advances in genetics and imaging enable prenatal diagnosis, though milder cases may go undetected. Effective management requires a multidisciplinary approach involving various specialists. This review emphasises early diagnosis, continuous monitoring, and comprehensive management of spinal pathology in skeletal dysplasia. In the current article, the authors present a thorough review on spinal conditions associated with skeletal dysplasia, their pathophysiology and management options.
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