Achondroplasia current concept of orthopaedic management.

IF 1.3 4区 医学 Q3 ORTHOPEDICS Journal of Childrens Orthopaedics Pub Date : 2024-08-27 eCollection Date: 2024-10-01 DOI:10.1177/18632521241269340
Gabriel T Mindler, Alexandra Stauffer, Catharina Chiari, Kiril Mladenov, Joachim Horn
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Abstract

Achondroplasia, the most common form of inherited disproportionate short stature, is caused by mutations in the fibroblast growth factor receptor 3 gene. The typical clinical features of achondroplasia include short stature, rhizomelic disproportion, joint hyperlaxity, spinal deformity and deformity of the upper and lower limbs. The latter are among the challenges of state-of-the-art orthopaedic treatment plans and significantly contribute to the burden of the disease in individuals with achondroplasia. Multidisciplinary preoperative individual decision-making concerning surgical interventions should be considered. New medical treatments for achondroplasia have been developed and (some) have been approved for clinical use in several countries. While the number of research articles on achondroplasia is increasing rapidly, many unknown or controversial orthopaedic topics remain. Furthermore, in view of new medical developments with improvements in growth and potentially other effects, the timing and algorithms of orthopaedic treatments (e.g. guided growth, limb lengthening and deformity correction) need to be re-evaluated. While standing height is the primary research focus in medical therapy, it is crucial to comprehensively assess orthopaedic parameters in this multifactorial disease. The current treatment of patients with achondroplasia requires specialised multidisciplinary centres with transitional care and individual orthopaedic counselling.

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软骨发育不全症矫形治疗的当前概念。
软骨发育不全症是一种最常见的遗传性矮小,是由成纤维细胞生长因子受体 3 基因突变引起的。软骨发育不全症的典型临床特征包括身材矮小、根茎发育不全、关节过度松弛、脊柱畸形和上下肢畸形。后者是最先进的矫形治疗方案所面临的挑战之一,并极大地加重了软骨发育不全患者的疾病负担。在手术干预方面,应考虑多学科术前个体决策。目前已开发出治疗软骨发育不全的新药物,其中一些已在多个国家获准用于临床。虽然有关软骨发育不全的研究文章数量正在迅速增加,但仍有许多未知或有争议的矫形课题。此外,鉴于新的医学发展对生长和潜在的其他影响有所改善,矫形治疗(如引导生长、肢体延长和畸形矫正)的时机和算法需要重新评估。虽然站立高度是医学治疗的主要研究重点,但全面评估这种多因素疾病的矫形参数也至关重要。目前对软骨发育不全患者的治疗需要专门的多学科中心提供过渡性护理和个体矫形咨询。
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来源期刊
Journal of Childrens Orthopaedics
Journal of Childrens Orthopaedics Medicine-Orthopedics and Sports Medicine
CiteScore
2.70
自引率
14.30%
发文量
61
审稿时长
23 weeks
期刊介绍: Aims & Scope The Journal of Children’s Orthopaedics is the official journal of the European Paediatric Orthopaedic Society (EPOS) and is published by The British Editorial Society of Bone & Joint Surgery. It provides a forum for the advancement of the knowledge and education in paediatric orthopaedics and traumatology across geographical borders. It advocates an increased worldwide involvement in preventing and treating musculoskeletal diseases in children and adolescents. The journal publishes high quality, peer-reviewed articles that focus on clinical practice, diagnosis and treatment of disorders unique to paediatric orthopaedics, as well as on basic and applied research. It aims to help physicians stay abreast of the latest and ever-changing developments in the field of paediatric orthopaedics and traumatology. The journal welcomes original contributions submitted exclusively for review to the journal. This continuously published online journal is fully open access and will publish one print issue each year to coincide with the EPOS Annual Congress, featuring the meeting’s abstracts.
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