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Hereditary Multiple Exostoses: Current Insights [PDF]

Orthopedic Research and Reviews, 2019
Antonio D’Arienzo, Lorenzo Andreani, Federico Sacchetti, Simone Colangeli, Rodolfo Capanna Department of Translational Research on New Surgical and Medical Technologies, University of Pisa, Pisa, ItalyCorrespondence: Federico SacchettiDepartment of
D'Arienzo A, Andreani L, Sacchetti F, Colangeli S, Capanna R   +4 more
doaj   +7 more sources

Spinal Exostosis in a Boy with Multiple Hereditary Exostoses [PDF]

Case Reports in Orthopedics, 2013
We report on a 13-year-old boy who presented with multiple hereditary exostosis and had development of back pain, associated with neurological deficits, and was found to have exostoses in the spinal canal.
Ali Al Kaissi, Rudolf Ganger, Klaus Klaushofer, Franz Grill   +3 more
doaj   +5 more sources

Management of Lower Extremity Deformity in Children with Hereditary Multiple Exostoses [PDF]

Journal of the Pediatric Orthopaedic Society of North America
Hereditary multiple exostoses (HME) is a rare genetic disorder characterized by multiple benign, cartilage-capped bony tumors, most often found at the juxta-epiphyseal regions of long bones.
Matthew J. Whalen, MS, Harold J.P. van Bosse, MD   +1 more
doaj   +3 more sources

The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses [PDF]

Clinical Case Reports, 2022
To identify the pathogenic gene variation in a Chinese family with Hereditary Multiple Exostoses (HME). By examining blood‐sourced DNA and clinical manifestations of the proband and his family members, the whole exome sequencing (WES) and Sanger ...
Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu   +4 more
doaj   +3 more sources

Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report [PDF]

Journal of Current Ophthalmology, 2023
Purpose: To study rare ocular findings in a rare case of hereditary multiple exostoses (HME) and to study HME in one family. Methods: HME is an autosomal dominant genetic disease characterized by the presence of multiple exostoses (osteochondromas).
Shashi Tanwar, Nishtha Saini, Krutika Boriwal, Prashant Sharma   +3 more
doaj   +2 more sources

Hereditary Multiple Exostoses with Ulnar Hemimelia

Proceedings, 2021
Hereditary Multiple Exostoses is a skeletal dysplasia that is very rare and defined by formation of numerous cartilage capped benign tumours either pedunculated or sessile known as osteochondromas throughout skeleton especially around the growth plates ...
Syed Wasif Ali Shah, Muhammad Abdul Shakoor, Usman Amjad, Haider Ali, Waleed Imtiaz, Shafqat Raza   +5 more
doaj   +3 more sources

Hereditary multiple exostoses: A case report and literature review [PDF]

SAGE Open Medical Case Reports, 2022
Osteochondroma is the most common bone tumor representing 20%–50% of all benign bone tumors and 10%–15% of all bone tumors. Osteochondroma has similar radiological appearance in both solitary and multiple forms; the latter is an autosomal dominant ...
Thi Hien Ha, Thi Minh Thi Ha, Mao Nguyen Van, Trong Binh Le, Nghi Thanh Nhan Le, Thao Nguyen Thanh, Dac Hong An Ngo   +6 more
doaj   +2 more sources

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. [PDF]

, 1998
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses).
Bakker E, Conrad EU, De Boulle K, Hamel B, Hendrickx J, Lüdecke HJ, Matsushita M, Mollica F, Mortier G, PAZZAGLIA, Ugo, Raskind WH, Sayli BS, Van Hul W, Vanhoenacker F, Willems PJ, Wuyts W   +15 more
core   +3 more sources

Hereditary multiple exostoses with a giant osteochondroma degenerated into chondrosarcoma [PDF]

Radiology Case Reports
We present a case of hereditary multiple exostoses with malignant transformation to chondrosarcoma in a woman complaining of enlargement and pain in the right thigh.
Federica Masino, MD, Manuela Montatore, MD, Rossella Carpentiere, MD, Marina Balbino, MD, Rossella Gifuni, MD, Giacomo Fascia, MD, Giuseppe Guglielmi, MD   +6 more
doaj   +2 more sources

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

Journal of Clinical and Diagnostic Research, 2016
Hereditary multiple exostoses an autosomal dominant skeletal disorder characterized by multiple cartilage-capped benign exostoses that typically occur in the metaphysis of long bones.
Zeynep Hazar Kanik, Gurkan Gunaydin, Ugur Sozlu, Seyit Citaker, Erdinc Esen   +4 more
doaj   +3 more sources