Research & Literature

Multidetector computed tomography in the evaluation of hereditary multiple exostoses.

Kwee RM, Fayad LM, Fishman EK, Fritz J

European journal of radiology 2016; (85(2)):383-91.

Eccentric Training as an Adjunct to Rehabilitation Program for Hereditary Multiple Exostoses: A Case Report.

Kanik ZH, Gunaydin G, Sozlu U, et al.

Journal of clinical and diagnostic research : JCDR 2016; (10(2)):YD03-4 doi:10.7860/JCDR/2016/16898.7302.

Imaging of benign complications of exostoses of the shoulder, pelvic girdles and appendicular skeleton.

Gavanier M, Blum A

Diagnostic and interventional imaging 2017; (98(1)):21-28 doi:10.1016/j.diii.2015.11.021.

Management of nerve compression in multiple hereditary exostoses: a report of two cases and review of the literature.

Payne R, Sieg E, Fox E, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2016; (32(12)):2453-2458 doi:10.1007/s00381-016-3166-3.

Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.

Cousminer DL, Arkader A, Voight BF, et al.

Bone 2016; (92()):196-200 doi:10.1016/j.bone.2016.09.005.

Novel mutation of EXT2 identified in a large family with multiple osteochondromas.

Chen XJ, Zhang H, Tan ZP, et al.

Molecular medicine reports 2016; (14(5)):4687-4691 doi:10.3892/mmr.2016.5814.

Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern.

Beltrami G, Ristori G, Scoccianti G, et al.

Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases 2016; (13(2)):110-118 doi:10.11138/ccmbm/2016.13.2.110.

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas.

Akbaroghli S, Balali M, Kamalidehghan B, et al.

Therapeutics and clinical risk management 2017; (13()):15-19 doi:10.2147/TCRM.S111717.

Daughter and mother diagnosed with hereditary multiple exostoses: A case report and a review of the literature.

Mărginean CO, Meliţ LE, Mărginean MO

Medicine 2017; (96(1)):e5824 doi:10.1097/MD.0000000000005824.

An Evaluation of Forearm Deformities in Hereditary Multiple Exostoses: Factors Associated With Radial Head Dislocation and Comprehensive Classification.

Jo AR, Jung ST, Kim MS, et al.

The Journal of hand surgery 2017; (42(4)):292.e1-292.e8 doi:10.1016/j.jhsa.2017.01.010.

Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments.

Pacifici M

Current osteoporosis reports 2017; (15(3)):142-152 doi:10.1007/s11914-017-0355-2.

Aberrant perichondrial BMP signaling mediates multiple osteochondromagenesis in mice.

Inubushi T, Nozawa S, Matsumoto K, et al.

JCI insight 2017; (2(15)).

Hereditary multiple exostoses as a novel cause of bilateral popliteal artery aneurysms in the elderly.

Ferrari EJ, Crotty RK, Eikermann-Haerter K, Stone JR

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 2017; (31()):20-25 doi:10.1016/j.carpath.2017.07.001.

One-stage surgical excision of a huge bilateral multiple osteochondroma of the hip: a case report.

Taheriazam A, Saeidinia A

Electronic physician 2017; (9(9)):5310-5317 doi:10.19082/5310.

Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference.

Phan AQ, Pacifici M, Esko JD

Connective tissue research 2018; (59(1)):85-98 doi:10.1080/03008207.2017.1394295.

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.

Li Y, Wang J, Wang Z, et al.

BMC medical genetics 2017; (18(1)):126 doi:10.1186/s12881-017-0488-2.

The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses.

Pacifici M

Matrix biology : journal of the International Society for Matrix Biology 2018; (71-72()):28-39 doi:10.1016/j.matbio.2017.12.011.

Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma.

Ruan W, Cao L, Chen Z, et al.

Oncology letters 2018; (15(4)):4383-4389 doi:10.3892/ol.2018.7838.

A Rare Presentation and Management of Forearm Deformity in a Patient with Hereditary Multiple Exostoses: A Case Report.

Agashe M, Shah A, Parikh SN

JBJS case connector 2018; (8(3)):e53 doi:10.2106/JBJS.CC.17.00295.

Osteoblastic Osteosarcoma Arising beneath an Osteochondroma in an 11-Year-Old Male with Multiple Hereditary Exostoses.

Bukara E, Buteera AM, Karakire R, et al.

Case reports in orthopedics 2018; (2018()):8280415 doi:10.1155/2018/8280415.

Chondrosarcoma transformation in hereditary multiple exostoses: A systematic review and clinical and cost-effectiveness of a proposed screening model.

Fei L, Ngoh C, Porter DE

Journal of bone oncology 2018; (13()):114-122 doi:10.1016/j.jbo.2018.09.011.

Multiple Exostoses Syndrome and Basilar Artery Aneurysm: A Case Report.

Ploumis A, Liampas A, Angelidis M, et al.

Journal of vascular and interventional neurology 2018; (10(2)):28-32.

Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series.

Long X, Li Z, Huang Y, et al.

Medicine 2019; (98(20)):e15692 doi:10.1097/MD.0000000000015692.

Insights into the molecular regulatory network of pathomechanisms in osteochondroma.

Yang C, Zhang R, Lin H, Wang H

Journal of cellular biochemistry 2019; (120(10)):16362-16369 doi:10.1002/jcb.29155.

Hereditary multiple exostoses: are there new plausible treatment strategies?

Pacifici M

Expert opinion on orphan drugs 2018; (6(6)):385-391 doi:10.1080/21678707.2018.1483232.

Less Is More: Ulnar Lengthening Alone without Radial Corrective Osteotomy in Forearm Deformity Secondary to Hereditary Multiple Exostoses.

Hsu PJ, Wu KW, Lee CC, et al.

Journal of clinical medicine 2019; (8(11)) doi:10.3390/jcm8111765.

Late presentation of spinal cord compression in hereditary multiple exostosis: case reports and review of the literature.

Gigi R, Kurian BT, Cole A, Fernandes JA

Journal of children's orthopaedics 2019; (13(5)):463-470 doi:10.1302/1863-2548.13.180130.

Hereditary Multiple Exostoses: Current Insights.

D'Arienzo A, Andreani L, Sacchetti F, et al.

Orthopedic research and reviews 2019; (11()):199-211 doi:10.2147/ORR.S183979.

Sarcomatous Transformation of Recurrent Scapular Osteochondroma in a Patient with the Hereditary Multiple Osteochondromas: A Case Report and Literature Review.

Sajid S, Yousaf A, Nabi U, et al.

Cureus 2019; (11(12)):e6308 doi:10.7759/cureus.6308.

Spinal Screening MRI Trends in Patients with Multiple Hereditary Exostoses: National Survey.

Montgomery BK, Cahan EM, Frick S

Cureus 2019; (11(12)):e6452 doi:10.7759/cureus.6452.

Forearm Deformity and Radial Head Dislocation in Pediatric Patients with Hereditary Multiple Exostoses: A Prospective Study Using Proportional Ulnar Length as a Scale to Lengthen the Shortened Ulna.

Huang P, Zhu L, Ning B

The Journal of bone and joint surgery. American volume 2020; (102(12)):1066-1074 doi:10.2106/JBJS.19.01444.

Multiple hereditary exostoses and enchondromatosis.

Jurik AG

Best practice & research. Clinical rheumatology 2020; (34(3)):101505 doi:10.1016/j.berh.2020.101505.

Total knee arthroplasty with simultaneous tibial shaft osteotomy in patient with multiple hereditary osteochondromas and multiaxial limb deformity - a case report.

Grzelecki D, Szneider J, Marczak D, Kowalczewski J

BMC musculoskeletal disorders 2020; (21(1)):233 doi:10.1186/s12891-020-03245-x.

Correlation between mutated genes and forearm deformity in patients with multiple osteochondroma.

Matsumoto K, Ishimaru D, Ogawa H, et al.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 2021; (26(3)):483-486 doi:10.1016/j.jos.2020.05.012.

Osteochondromas: An Updated Review of Epidemiology, Pathogenesis, Clinical Presentation, Radiological Features and Treatment Options.

Tepelenis K, Papathanakos G, Kitsouli A, et al.

In vivo (Athens, Greece) 2021; (35(2)):681-691 doi:10.21873/invivo.12308.

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.

Al-Zayed Z, Al-Rijjal RA, Al-Ghofaili L, et al.

Orphanet journal of rare diseases 2021; (16(1)):100 doi:10.1186/s13023-021-01738-z.

Reconstruction of the Hip in Multiple Hereditary Exostoses.

Lee DH, Paley D

Children (Basel, Switzerland) 2021; (8(6)) doi:10.3390/children8060490.

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing.

Yang M, Xie H, Xu B, et al.

Journal of clinical laboratory analysis 2021; (35(9)):e23968 doi:10.1002/jcla.23968.

C1 C2 spinal cord compression in hereditary multiple exostoses: case report and review of the literature.

Jemel N, Gader G, Bedioui A, et al.

International journal of surgery case reports 2021; (89()):106576 doi:10.1016/j.ijscr.2021.106576.

Rapidly acquired valgus deformity of the knee after osteochondroma resection in multiple hereditary exostoses pediatric patients: A report of two cases.

Aitchison AH, Alcoloumbre D, Belzarena AC, Blanco JS

Radiology case reports 2022; (17(1)):201-207 doi:10.1016/j.radcr.2021.10.037.

Hereditary Multiple Exostoses-A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies.

Bukowska-Olech E, Trzebiatowska W, Czech W, et al.

Frontiers in genetics 2021; (12()):759129 doi:10.3389/fgene.2021.759129.

Lower limb deformities and limb length discrepancies in hereditary multiple exostoses.

Madoki A, Tuerlinckx C, Rausin G, et al.

Acta orthopaedica Belgica 2022; (88(1)):198-205 doi:10.52628/88.1.25.

Hereditary multiple exostoses: A case report and literature review.

Ha TH, Ha TMT, Nguyen Van M, et al.

SAGE open medical case reports 2022; (10()):2050313X221103732 doi:10.1177/2050313X221103732.

Guided Growth Improves Coxa Valga and Hip Subluxation in Children With Hereditary Multiple Exostoses.

Hung TY, Wu KW, Lee CC, et al.

Journal of pediatric orthopedics 2023; (43(1)):e67-e73 doi:10.1097/BPO.0000000000002296.

Venous malformation may be a feature of EXT1-related hereditary multiple exostoses: A report of two unrelated probands.

Albokhari D, Bailey CR, Hwang F, et al.

American journal of medical genetics. Part A 2023; (191(6)):1570-1575 doi:10.1002/ajmg.a.63158.

One-Bone Forearm Procedure for Severe Recalcitrant Forearm Deformities in Masada IIb Hereditary Multiple Exostoses.

Agashe MV, Shah M, Choudhry A, et al.

Indian journal of orthopaedics 2023; (57(11)):1777-1784 doi:10.1007/s43465-023-00968-6.

Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.

Gnoli M, Gambarotti M, Righi A, et al.

Orphanet journal of rare diseases 2024; (19(1)):63 doi:10.1186/s13023-023-03006-8.

A Rare Case of Hereditary Multiple Exostoses in a Woman.

Ghamri RA

Orthopedic nursing 2024; (43(2)):119-122 doi:10.1097/NOR.0000000000001018.

Peroneal Nerve Decompression in Patients with Multiple Hereditary Exostoses: Indications, Complications, and Recurrence.

Huser AJ, Nugraha HK, Hariharan AR, et al.

The Journal of bone and joint surgery. American volume 2024; (106(14)):1277-1285 doi:10.2106/JBJS.23.01398.

Pneumothorax as the first presentation of multiple exostosis.

Khoury L, Jabarin M, Hamad Saied M

Pediatric pulmonology 2025; (60(1)):e27316 doi:10.1002/ppul.27316.

Forearm Giant Osteochondromas in a Young Patient With Multiple Hereditary Exostoses: A Case Report.

Sulaiman SR, Ismail HM, Al-Zubaidi SA, et al.

Cureus 2025; (17(1)):e77295 doi:10.7759/cureus.77295.

Hereditary multiple exostoses: an educational review.

Rueda-de-Eusebio A, Gomez-Pena S, Moreno-Casado MJ, et al.

Insights into imaging 2025; (16(1)):46 doi:10.1186/s13244-025-01899-6.

Spontaneous Regression of Multiple Osteochondromas in a Patient With Hereditary Multiple Exostoses: A Case Report.

Ikeda K, Teruya S, Tsuge H, Onishi S

Cureus 2025; (17(7)):e88111 doi:10.7759/cureus.88111.

Management of Lower Extremity Deformity in Children with Hereditary Multiple Exostoses.

Whalen MJ, van Bosse HJP

Journal of the Pediatric Orthopaedic Society of North America 2025; (13()):100277 doi:10.1016/j.jposna.2025.100277.

Investigating possible predictors of malignant transformation of osteochondroma: a retrospective cohort study with an illustrative case report.

Hederick LL, Goh MH, Ibáñez-Navarro A, et al.

Skeletal radiology 2026; doi:10.1007/s00256-026-05162-x.

A Unique Case of Asymptomatic Osteochondroma From the Rib in Multiple Hereditary Exostoses: Insights Into Screening and Management.

Larson LM, Morgan SJ, Guillaume TJ

JBJS case connector 2026; (16(1)) doi:e25.00477.