Bone deformities with hereditary multiple osteochondromas.

IF 1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Danish medical journal Pub Date : 2025-04-29 DOI:10.61409/A11230696

Rikke Brink Petersen, Christina Damgaard Buch, Christian Faergemann, Tine Nymark

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引用次数: 0

Abstract

Introduction: Hereditary multiple osteochondromas (HMO) is a genetic skeletal disorder caused by defects in exostosin glycosyltransferase 1 (EXT1) or 2 (EXT2) genes. It develops mainly in the growth period and causes multiple osteochondromas (OC) in the physis of the long bones, leading to discomfort and deformities. This study aimed to investigate the anatomical distribution of OC, the frequency of deformities of the lower limbs, scoliosis and surgeries performed in a cohort of patients with HMO at the time of their enrolment in a regional surveillance programme.

Methods: The study population included HMO patients from the Centre of Heritable and Complex Diseases (CAKS) in the Region of Southern Denmark. Information on surgical procedures and age at the time of diagnosis was obtained from medical records, while deformities were evaluated on early-onset scoliosis (EOS) scans from time of enrolment in the CAKS.

Results: A total of 54 patients were included and 44 patients (82%) had an EOS scan. All except one (98%) HMO patient had OC in the knees at the time of their EOS scan. A total of 12 patients (27%) had leg length discrepancy, 30 (68%) had genu varum or valgum and 13 (30%) had scoliosis. The HMO patients had undergone a median of 2.0 (0-14) surgeries, where a median of four (1-23) OC were removed, mostly in the lower limb (68%).

Conclusions: The majority of HMO patients in this cohort suffered from major anatomical burdens, leading to multiple surgeries and deformities. We suggest that a programme, such as the CAKS surveillance programme, may be beneficial to screening and follow-up of OC and deformities in patients with HMO.

Funding: None.

Trial registration: Not relevant.

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骨畸形伴遗传性多发性骨软骨瘤。

简介：遗传性多发性骨软骨瘤（HMO）是一种由外肌球蛋白糖基转移酶1 （EXT1）或2 （EXT2）基因缺陷引起的遗传性骨骼疾病。它主要发生在生长期，并在长骨的物理中引起多发性骨软骨瘤（OC），导致不适和畸形。本研究旨在调查一组HMO患者的解剖分布、下肢畸形、脊柱侧凸和手术的频率，这些患者在参加区域监测计划时进行了手术。方法：研究人群包括来自丹麦南部地区遗传和复杂疾病中心（CAKS）的HMO患者。从医疗记录中获得手术程序和诊断时的年龄信息，而从CAKS入组时开始，通过早发性脊柱侧凸（EOS）扫描评估畸形。结果：共纳入54例患者，44例（82%）患者进行了EOS扫描。除一名（98%）HMO患者外，所有患者在EOS扫描时均有膝关节OC。共有12例（27%）患者有腿长差异，30例（68%）患者有膝内翻或外翻，13例（30%）患者有脊柱侧凸。HMO患者中位数为2.0例（0-14例）手术，其中中位数为4例（1-23例）OC被切除，大部分在下肢（68%）。结论：该队列中大多数HMO患者存在较大的解剖负担，导致多次手术和畸形。我们建议一个项目，如CAKS监测项目，可能有利于筛查和随访HMO患者的OC和畸形。资金:没有。试验注册：不相关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Danish medical journal MEDICINE, GENERAL & INTERNAL-

CiteScore

2.30

自引率

6.20%

发文量

审稿时长

3-8 weeks

期刊介绍： The Danish Medical Journal (DMJ) is a general medical journal. The journal publish original research in English – conducted in or in relation to the Danish health-care system. When writing for the Danish Medical Journal please remember target audience which is the general reader. This means that the research area should be relevant to many readers and the paper should be presented in a way that most readers will understand the content. DMJ will publish the following articles: • Original articles • Protocol articles from large randomized clinical trials • Systematic reviews and meta-analyses • PhD theses from Danish faculties of health sciences • DMSc theses from Danish faculties of health sciences.