Orthopaedics and Trauma最新文献

Overview of technical considerations when performing hip and knee arthroplasty in rare bone disease 罕见骨病行髋关节和膝关节置换术时的技术考虑概述

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.011

Vlad Paraoan, Antony Palmer

引用次数: 0

X-linked hypophosphataemic rickets x连锁低磷佝偻病

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.002

Muhammad Kassim Javaid

引用次数: 0

Beyond infection: recognizing and managing chronic non-bacterial osteitis – a review for orthopaedic practice 超越感染：识别和管理慢性非细菌性骨炎-骨科实践综述

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.009

Tiara Gill, Luqman Wali, Amy Culham, Benjamin Jacobs, Cristina Ilea

{"title":"Beyond infection: recognizing and managing chronic non-bacterial osteitis – a review for orthopaedic practice","authors":"Tiara Gill, Luqman Wali, Amy Culham, Benjamin Jacobs, Cristina Ilea","doi":"10.1016/j.mporth.2026.07.009","DOIUrl":"10.1016/j.mporth.2026.07.009","url":null,"abstract":"<div><div>Chronic non-bacterial osteitis (CNO) is a rare autoinflammatory bone disease encompassing a spectrum of conditions including, chronic recurrent multifocal osteomyelitis (CRMO), and SAPHO syndrome. The hallmark is sterile osteitis, driven by innate immune dysregulation rather than infection. Although first described in 1972, CNO remains significantly under-recognized with consequent diagnostic delays. The condition most frequently involves the anterior chest wall and clavicle, but any bone may be affected; multifocal and bilateral symmetric involvement is characteristic. Orthopaedic surgeons may encounter these patients during workup for suspected infection or malignancy. Delayed diagnosis can lead to prolonged antimicrobial treatment, repeated biopsies and missed therapeutic windows. This article summarises the current understanding of CNO pathophysiology, describes the clinical and radiological features across paediatric and adult populations, outlines a structured diagnostic approach, and presents a stepwise management algorithm. Specific orthopaedic considerations – including the indications for biopsy, the role of whole-body MRI, indication for surgical intervention, and management of complications such as vertebral collapse and growth disturbance – are addressed. Two illustrative cases are presented. Early recognition and prompt referral to a specialist multidisciplinary team underpins optimal outcomes.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 315-323"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Achondroplasia: clinical features, pathophysiology and management 软骨发育不全：临床特征、病理生理及治疗

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.008

Tommaso Toschetti, Moira Cheung

{"title":"Achondroplasia: clinical features, pathophysiology and management","authors":"Tommaso Toschetti, Moira Cheung","doi":"10.1016/j.mporth.2026.07.008","DOIUrl":"10.1016/j.mporth.2026.07.008","url":null,"abstract":"<div><div>Achondroplasia is the most common skeletal dysplasia, arising from a gain-of-function variant in FGFR3 that disrupts endochondral ossification and results in a highly conserved pattern of skeletal dysmorphology. Although short stature is the most visible feature, the clinical burden extends well beyond growth: a developmentally narrow craniospinal canal, altered vertebral morphology and abnormal limb alignment generate a substantial lifetime surgical burden that begins in infancy and continues into adulthood. This review covers the pathophysiology, diagnostic pathway and principal complications relevant to orthopaedic practice. Foramen magnum stenosis and sleep-disordered breathing require active surveillance from birth and must be formally assessed before any elective intervention. Spinal complications, including thoracolumbar kyphosis and lumbar stenosis, follow a broadly predictable natural history, while lower-limb malalignment and ligamentous laxity contribute to progressive functional limitation across the lifespan. Orthopaedic input in achondroplasia in children primarily focuses on restoration of the mechanical axis via guided growth or osteotomies but limb lengthening in upper and/or lower limbs can also be offered. The therapeutic landscape has shifted considerably with the introduction of disease-modifying pharmacotherapy. These agents are now part of routine care for many children with achondroplasia in some countries and have implications for surgical planning that orthopaedic teams need to be aware of. Safe, effective management of achondroplasia requires structured, anticipatory surveillance and close coordination within a specialist medical team throughout life.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 307-314"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Spinal surgery in rare bone disease: challenges and outcomes 脊柱手术治疗罕见骨病：挑战和结果

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.012

Adrian Gardner

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Editorial: Introduction to the Rare Bone Diseases special edition 社论：罕见骨病特别版简介

Orthopaedics and Trauma Pub Date : 2026-10-01 DOI: 10.1016/j.mporth.2026.07.015

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CME questions on Rare Bone Diseases CME关于罕见骨病的问题

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-24 DOI: 10.1016/j.mporth.2026.07.014

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Osteogenesis imperfecta: classification, diagnosis and management 成骨不全症的分类、诊断与治疗

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.001

Chidambaram Sethuraman, Meena Balasubramanian

{"title":"Osteogenesis imperfecta: classification, diagnosis and management","authors":"Chidambaram Sethuraman, Meena Balasubramanian","doi":"10.1016/j.mporth.2026.07.001","DOIUrl":"10.1016/j.mporth.2026.07.001","url":null,"abstract":"<div><div>Osteogenesis imperfecta (OI) is a rare inherited connective tissue disorder and the most common cause of heritable bone fragility. Approximately 85–90% of cases result from pathogenic variants in <em>COL1A1</em> and <em>COL1A2</em>, typically following an autosomal dominant pattern of inheritance. The classification system proposed by Sillence et al. in 1979 originally described four clinical types and this has expanded to include additional subtypes with distinct phenotypic features and genetically heterogeneous causes, including autosomal recessive and X-linked recessive forms. The clinical spectrum of OI is highly variable, ranging from severe forms with multiple <em>in utero</em> fractures and perinatal lethality to milder presentations characterized by near normal stature and low fracture incidence. Early and accurate diagnosis is essential, particularly in the antenatal and neonatal periods, both for prognostic purposes and to differentiate OI from non-accidental injury. Management of OI is multidisciplinary, involving coordinated care from physiotherapists, occupational therapists, orthopaedic surgeons and metabolic bone specialists. Pharmacological treatment, particularly with bisphosphonates, has significantly improved outcomes by increasing bone mineral density, reducing fracture risk and enhancing quality of life in children. In contrast, there appears to be little role for bisphosphonates and dual energy X-ray absorptiometry scanning for adults with OI. This article provides an overview of bone biology, outlines the clinical features, classification and genetic variants of OI and highlights key principles in assessment and management.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 256-264"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Multiple epiphyseal dysplasia and related disorders 多发性骨骺发育不良及相关疾病

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.007

Paul Wordsworth

{"title":"Multiple epiphyseal dysplasia and related disorders","authors":"Paul Wordsworth","doi":"10.1016/j.mporth.2026.07.007","DOIUrl":"10.1016/j.mporth.2026.07.007","url":null,"abstract":"<div><div>Genetic developmental disorders of the skeleton are individually rare but together constitute an important area of orthopaedic practice. The multiple epiphyseal dysplasias represent a subgroup of these conditions in which endochondral ossification is disrupted by defects that are primarily in cartilage metabolism in the developing skeleton. The ends of the tubular bones (epiphyses) and articular cartilage are particularly affected; this is manifest variably as short stature (sometimes disproportionate), abnormal joint structure, angular deformities of the joints and long bones, and premature degenerative arthritis. The genes responsible for most of these conditions have been identified in the past 40 years but current medical treatments are still largely limited to providing symptomatic relief. In childhood, orthopaedic intervention is sometimes required to correct major structural abnormalities of the joints or for limb realignment. Premature osteoarthritis is a common consequence of many of these disorders and joint replacement surgery (particularly hips but also knees) is quite commonly required in early adult life for those with the more severe variants of these conditions. This review provides a framework for distinguishing the various forms of multiple epiphyseal dysplasia, their underlying causes, and the principles of medical and surgical treatment.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 297-306"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Multiple hereditary exostosis and Ollier's disease: how to tell the difference and next steps 多发性遗传性外生性增生和奥利氏病：如何区分和下一步

Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.006

Muhammad Kassim Javaid

{"title":"Multiple hereditary exostosis and Ollier's disease: how to tell the difference and next steps","authors":"Muhammad Kassim Javaid","doi":"10.1016/j.mporth.2026.07.006","DOIUrl":"10.1016/j.mporth.2026.07.006","url":null,"abstract":"<div><div>Both hereditary multiple exostosis (HME) and Ollier's disease (OD) present with focal bony expansions. However, they have distinct aetiologies and prognosis. HME causes multiple osteochondromas that are exophytic growths outside of the bone, typically around the metaphysis and diaphysis and affecting particularly the fibular and ulna more than the tibia and radius. In contrast, OD causes multiple enchondromas that are expansile bony masses in the diaphysis of the limbs and hand bones. Both conditions tend to spare the skull, are asymmetric and can lead to significant deformity. OD can lead to shortened deformed bones with gross local swelling. HME can cause a Madelung deformity of the wrist and short stature. Both present during childhood. The major difference is in the risk of malignancy. The risk of skeletal malignancy is much higher in OD, and patients with OD also have increased risk of other cancers such as of the ovary and liver. In the absence of targeted medical therapies, surgical treatment is focused on removing lesions that, if left, have a high potential for functional loss along with robust surveillance for both local complications and malignant transformation.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 291-296"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0