Tsirikos Athanasios I, Jain Akash, Ahuja Kaustubh
Scottish National Spine Deformity Centre, Royal Hospital for Sick Children, Edinburgh EH91LF, United Kingdom.
Department of Orthopaedics, All India Institute of Medical Sciences, Rishikesh 249203, Uttarākhand, India.
World J Methodol. 2025 Dec 20;15(4):102401. doi: 10.5662/wjm.v15.i4.102401.
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.
骨骼发育异常包括许多以骨骼和软骨生长异常为特征的遗传性疾病，可导致各种脊柱问题。2023年的疾病分类法确定了771种不同的发育异常，涉及552个基因，其中软骨发育不全最为常见，且对脊柱有显著影响。其他疾病包括II型胶原病、硫酸化缺陷、细丝蛋白B疾病和成骨不全，表现为身材矮小、肢体畸形、关节挛缩和脊柱异常。脊柱病理通常会影响生长板生长区域，导致枕大孔狭窄、寰枢椎不稳、椎管狭窄、后凸和脊柱侧凸等情况。非骨科症状可能包括听力和视力丧失、脑积水等神经问题以及心脏异常。发病率约为每4000至5000例出生中有1例，软骨发育不全约为每30000例活产中有1例。遗传学和影像学的进展使产前诊断成为可能，不过症状较轻的病例可能未被发现。有效的管理需要多学科方法，涉及各类专家。本综述强调骨骼发育异常中脊柱病理的早期诊断、持续监测和综合管理。在当前文章中，作者对与骨骼发育异常相关的脊柱疾病、其病理生理学和管理选择进行了全面综述。
