ReviewOrthopedic research and reviews2019
Hereditary Multiple Exostoses: Current Insights.
Review in Orthopedic research and reviews, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
66 citing papers in PubMed, 77 citations in OpenAlex.
- Palovarotene for patients with multiple hereditary exostosis: results of MO-Ped, a terminated, randomized, placebo-controlled, double-blind phase 2 trial.Scientific reports · 2025Trial
- Chronic Pain as an Early Diagnostic Clue in Hereditary Multiple Exostoses: Two Pediatric Cases Highlighting Diagnostic Delay.Clinical case reports · 2026Article
- Orthopedic preoperative evaluation and surgical strategies of hereditary multiple osteochondromas involving the spinal region.EFORT open reviews · 2026Review
- Surgical hip dislocation and sliding hip screw system for a femoral neck osteochondroma in multiple hereditary exostoses: a case report.Journal of medical case reports · 2026Article
- Association of Cartilage Cap Thickness With Tumor Grade and Outcomes in Secondary Chondrosarcoma.The Journal of the American Academy of Orthopaedic Surgeons · 2026Article
- Health-related quality of life and physical activity in children with Multiple Osteochondromas.Journal of bone oncology · 2026Article
- Mycotic popliteal artery aneurysm due to exostosis treated by excision and bypass.Journal of vascular surgery cases and innovative techniques · 2026Article
- Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis.Molecular syndromology · 2026Review
- Hereditary Multiple Exostoses Presenting with Urinary Tract Obstruction Secondary to Imaging-Suspected Malignant Transformation: A Case Report.International medical case reports journal · 2026Article
- Cervical spinal myelopathy secondary to cervical exostoses: A rare cause of cord compression - A case report.Surgical neurology international · 2026Article
- Surgically Treated Benign Bone Tumors and Tumor-like Conditions in the Pediatric Population-A 10-Year Institutional Experience.Children (Basel, Switzerland) · 2025Article
- Malignant Transformation of Musculoskeletal Lesions with Imaging-Pathology Correlation-Part 1: Bone Lesions.Diagnostics (Basel, Switzerland) · 2025Review
- Malignancy Ratio in Pediatric Patients with Hereditary Multiple Exostoses: True Association or Reporting Bias?Pediatric reports · 2025Article
- Generation of Ext1 Gene-Edited Mice Model Via Dual sgRNAs/Cas9 System and Phenotypic Analyses.Molecular biotechnology · 2025Article
- Management of Lower Extremity Deformity in Children with Hereditary Multiple Exostoses.Journal of the Pediatric Orthopaedic Society of North America · 2025Review
- Development of a prediction model for lower limb deformity in patients with hereditary multiple exostoses based on interpretable models and nomogram.BMC medical informatics and decision making · 2025Article
- Physical activity level and health-related quality of life in adults with multiple osteochondromas: a Dutch cross-sectional study.Scientific reports · 2025Article
- Scapular osteochondroma with pseudo-winging: a report of two cases.Journal of surgical case reports · 2025Article
- Hereditary multiple exostoses: an educational review.Insights into imaging · 2025Article
- Paediatric vascular-related hereditary giant rib osteochondroma: report of a successful chest wall reconstruction.Journal of cardiothoracic surgery · 2025Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary multiple exostoses (HME), also called hereditary multiple osteochondromas, is a rare genetic disorder characterized by multiple osteochondromas that grow near the growth plates of bones such as the ribs, pelvis, vertebrae and especially long bones. The disease presents with various clinical manifestations including chronic pain syndromes, restricted range of motion, limb deformity, short stature, scoliosis and neurovascular alteration. Malignant transformation of exostosis is rarely seen. The disease has no medical treatment and surgery is only recommended in symptomatic exostoses or in cases where a malignant transformation is suspected. HME is mainly caused by mutations and functional loss of the EXT1 and EXT2 genes which encode glycosyltransferases, an enzyme family involved in heparan sulfate (HS) synthesis. However, the peculiar molecular mechanism that leads to the structural changes of the cartilage and to osteochondroma formation is still being studied. Basic science studies have recently shown new insights about altering the molecular and cellular mechanism caused by HS deficiency. Pediatricians, geneticists and orthopedic surgeons play an important role in the study and treatment of this severe pathology. Despite the recent significant advances, we still need novel insights to better specify the role of HS in signal transduction. The purpose of this review was to analyze the most relevant aspects of HME from the literature review, give readers an important tool to understand its clinical features and metabolic-pathogenetic mechanism, and to identify an effective treatment method. We focused on the aspects of the disease related to clinical management and surgical treatment in order to give up-to-date information that could be useful for following best clinical practice.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.