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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
{"title":"X-linked hypophosphataemic rickets","authors":"Muhammad Kassim Javaid","doi":"10.1016/j.mporth.2026.07.002","DOIUrl":"10.1016/j.mporth.2026.07.002","url":null,"abstract":"<div><div>X-linked hypophosphataemic (XLH) rickets is a rare bone disorder caused by an X-linked dominant variant in the phosphate regulating endopeptidase homolog called <em>PHEX</em>, which leads to in an increase fibroblast growth factor-23 (FGF23), and, in turn, excessive renal phosphate wasting. While XLH was primarily thought to be a disease of childhood with short stature, bone pain and fractures, it is becoming increasingly apparent that XLH continues to cause progressive skeletal and non-skeletal complications in adulthood. Adults can present with multiple potential causes for skeletal pain and dysfunction. Careful history and examination are needed to identity the likely culprit pathologies and guide further imaging and treatment, in particular spinal stenosis and Arnold Chiari malformations need to be ruled out. In adults, a low threshold is needed for imaging to exclude pseudofractures, especially of the femur. Management has been transformed by targeted antibody therapy to remove excess FGF23 using burosumab. The effect of burosumab to improve musculoskeletal health highlights the need for close collaboration between different disciplines for the optimal care of adults with XLH.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 265-269"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096620","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
Skeletal dysplasias and rare bone disorders: a template for assessment and management 骨骼发育不良和罕见骨疾病：评估和管理的模板
Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-26 DOI: 10.1016/j.mporth.2026.07.010
Sophie McGrann, Laura J. Clifton, Breanna Winger, Stephen Giles
{"title":"Skeletal dysplasias and rare bone disorders: a template for assessment and management","authors":"Sophie McGrann,&nbsp;Laura J. Clifton,&nbsp;Breanna Winger,&nbsp;Stephen Giles","doi":"10.1016/j.mporth.2026.07.010","DOIUrl":"10.1016/j.mporth.2026.07.010","url":null,"abstract":"<div><div>Rare bone disorders are just that, rare. Despite this fact, patients with these conditions are a relatively popular inclusion in orthopaedic clinical examinations. This paper aims to elucidate several of these conditions to improve the potential examination candidates' knowledge of their presentation, clinical examination findings, pathology and importantly, up to date principles of management of these conditions in the UK. This article will take the prospective candidate through the approach for a clinical examination, principles of management of skeletal dysplasias in UK practice, followed by more in depth discussion of multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia congenita and tarda, achondroplasia, pseudoachondroplasia, Ollier's disease, multiple hereditary exostosis, osteopetrosis, hypophosphatasia, fibrous dysplasia, osteogenesis imperfecta, cleidocranial dysplasia, X-linked hypophosphataemia, Langerhan's cell hystiocytosis and chronic non-bacterial osteomyelitis/chronic recurrent multifocal osteomyelitis. This work includes clinical photographs and radiographs (published with permission) to illustrate some of the key clinical and radiological findings of these conditions.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 324-336"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096626","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
Hypophosphatasia: classification, diagnosis and management 低磷血症的分类、诊断与治疗
Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-09-07 DOI: 10.1016/j.mporth.2026.07.005
Maritza Vidal, Judith S. Bubbear
{"title":"Hypophosphatasia: classification, diagnosis and management","authors":"Maritza Vidal,&nbsp;Judith S. Bubbear","doi":"10.1016/j.mporth.2026.07.005","DOIUrl":"10.1016/j.mporth.2026.07.005","url":null,"abstract":"<div><div>Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by reduced activity of tissue non-specific alkaline phosphatase (TNSALP). Deficient TNSALP activity results in the accumulation of its natural substrates, predominantly inorganic pyrophosphate, leading to impaired bone mineralization, dental problems and multi-system involvement. Clinical manifestations are heterogeneous, ranging from life-threatening perinatal disease to milder musculoskeletal phenotypes that present in adulthood or with pure dental involvement only. The rarity of HPP, alongside many symptoms being non-specific, contributes to frequent diagnostic delay. For the orthopaedic surgeon, recognising HPP is critical when evaluating patients with recurrent metatarsal stress fractures, atypical femoral fractures and delayed bone healing. This review outlines the pathophysiology, diagnostic criteria, assessment and both medical and orthopaedic treatment, including the use of enzyme replacement therapy.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 284-290"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096616","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
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,&nbsp;Luqman Wali,&nbsp;Amy Culham,&nbsp;Benjamin Jacobs,&nbsp;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":"149096625","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
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,&nbsp;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":"149096615","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
Fibrous dysplasia/McCune Albright syndrome 纤维发育不良/McCune - Albright综合征
Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-08-25 DOI: 10.1016/j.mporth.2026.07.004
Muhammad Kassim Javaid
{"title":"Fibrous dysplasia/McCune Albright syndrome","authors":"Muhammad Kassim Javaid","doi":"10.1016/j.mporth.2026.07.004","DOIUrl":"10.1016/j.mporth.2026.07.004","url":null,"abstract":"<div><div>Fibrous dysplasia/McCune Albright syndrome (FD/MAS) is a rare bone disorder caused by a post-fertilization mutation of the GNAS gene that leads to overactivity of that gene in a range of tissues including skeletal, endocrine and skin. Diagnosis is principally clinical and radiological confirmation. The variable multisystem involvement with different complications requires a holistic approach to assessment and management across the lifecourse including screening for potential complications due to endocrine hyperfunction. At present, there is no effective targeted therapy. From an orthopaedic perspective, fractures, deformity and bone pain are common and require specialized approaches from both medical and surgical perspectives. For incomplete fractures, radiographs and CT are preferred over MRI. For bone pain, while there is no supportive clinical trial evidence, a trial of intravenous bisphosphonates are recommended. Key to patient care is involvement with the UK national Fibrous Dysplasia Support Society to provide peer to peer support.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 279-283"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096622","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
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
{"title":"Overview of technical considerations when performing hip and knee arthroplasty in rare bone disease","authors":"Vlad Paraoan,&nbsp;Antony Palmer","doi":"10.1016/j.mporth.2026.07.011","DOIUrl":"10.1016/j.mporth.2026.07.011","url":null,"abstract":"<div><div>Hip and knee arthroplasty is a procedure that presents unique challenges when performed in those with rare bone disease, including assessment of bone quality and strength, prosthesis type and shape, along with techniques of fixation of the implants and subsequent stability. Complications are more common and may be more challenging to resolve. This review highlights the specific issues facing the surgeon when performing lower limb joint replacement in this patient group.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 337-340"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096702","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,&nbsp;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":"149096624","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
Hypophosphatasia: classification, diagnosis and management 低磷血症的分类、诊断与治疗
Orthopaedics and Trauma Pub Date : 2026-10-01 Epub Date: 2026-09-07 DOI: 10.1016/j.mporth.2026.07.005
Maritza Vidal, Judith S. Bubbear
{"title":"Hypophosphatasia: classification, diagnosis and management","authors":"Maritza Vidal,&nbsp;Judith S. Bubbear","doi":"10.1016/j.mporth.2026.07.005","DOIUrl":"10.1016/j.mporth.2026.07.005","url":null,"abstract":"<div><div>Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by reduced activity of tissue non-specific alkaline phosphatase (TNSALP). Deficient TNSALP activity results in the accumulation of its natural substrates, predominantly inorganic pyrophosphate, leading to impaired bone mineralization, dental problems and multi-system involvement. Clinical manifestations are heterogeneous, ranging from life-threatening perinatal disease to milder musculoskeletal phenotypes that present in adulthood or with pure dental involvement only. The rarity of HPP, alongside many symptoms being non-specific, contributes to frequent diagnostic delay. For the orthopaedic surgeon, recognising HPP is critical when evaluating patients with recurrent metatarsal stress fractures, atypical femoral fractures and delayed bone healing. This review outlines the pathophysiology, diagnostic criteria, assessment and both medical and orthopaedic treatment, including the use of enzyme replacement therapy.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 284-290"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096623","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
{"title":"Spinal surgery in rare bone disease: challenges and outcomes","authors":"Adrian Gardner","doi":"10.1016/j.mporth.2026.07.012","DOIUrl":"10.1016/j.mporth.2026.07.012","url":null,"abstract":"<div><div>Rare bone diseases can present to spinal surgeons with issues comprising instability, vertebral fracture, neurological compression and spinal deformity, and any or all can affect all areas of the spine. The management of these spinal issues can be challenging in their own right and is added to by the nuances of the rare bone condition itself. This article covers the specifics of the issues faced, through both an anatomical and pathological lens, to give the basics of the management of the spine aspects of these rare bone diseases to those that will see these conditions uncommonly, or need to know about them for examination purposes. Whilst not intending to cover all possible scenarios, this article provides the basics of knowledge and can be built on if required for those who work with this patient group.</div></div>","PeriodicalId":39547,"journal":{"name":"Orthopaedics and Trauma","volume":"40 5","pages":"Pages 341-346"},"PeriodicalIF":0.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096703","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
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