Results 1 to 10 of about 5,497,492 (144)

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

Molecular Cytogenetics, 2023
Background Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas.
Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, N. Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, L. Kousoulidou, Anna-Maria Anastasiou, P. Evangelidou, G. Tanteles, C. Sismani   +10 more
semanticscholar   +1 more source

Chest wall osteochondroma resection with biologic acellular bovine dermal mesh reconstruction in pediatric hereditary multiple exostoses: A case report and review of literature

World Journal of Clinical Cases, 2023
BACKGROUND Hereditary multiple exostoses is a rare genetic disorder characterized by the growth of multiple osteochondromas affecting primarily long bones. Chest wall lesions may represent a challenge, particularly in pediatric patients. Pain is a common
Abdullah J. AlShehri
semanticscholar   +1 more source

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

American Journal of Medical Genetics. Part A, 2023
Hereditary multiple exostoses (HME), also known as hereditary multiple osteochondroma (HMO), is an autosomal dominant disorder caused by pathogenic variants in exostosin‐1 or ‐2 (EXT1 or EXT2).
D. Albokhari, C. Bailey, Francis Hwang, C. Weiss, Jonathan Forsberg, N. Sobreira   +5 more
semanticscholar   +1 more source

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

Acta orthopaedica Belgica, 2022
There is a high rate of lower limb deformity and limb length discrepancy in patients with hereditary multiple exostoses (HME). The aim of this study was to evaluate the type and frequency of lower limbs axial deviation and limb length discrepancy and the
Alexandre Madoki, Clément Tuerlinckx, Gauthier Rausin, Kevin Guiraud, P. Docquier   +4 more
semanticscholar   +1 more source

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

Frontiers in Genetics, 2021
Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas, represents a rare and severe human skeletal disorder. The disease is characterized by multiple benign cartilage-capped bony outgrowths, termed exostoses or ...
Ewelina Bukowska-Olech, Wiktoria Trzebiatowska, Wiktoria Czech, Olga Drzymała, Piotr Frąk, Franciszek Klarowski, Piotr Kłusek, Anna Szwajkowska, A. Jamsheer   +8 more
semanticscholar   +1 more source

Osteochondroma formation is independent of heparanase expression as revealed in a mouse model of hereditary multiple exostoses

Journal of Orthopaedic Research, 2022
Hereditary multiple exostoses (HME) is a rare, pediatric disorder characterized by osteochondromas that form along growth plates and provoke significant musculoskeletal problems.
Christina Mundy, Juliet Chung, E. Koyama, S. Bunting, R. Mahimkar, M. Pacifici   +5 more
semanticscholar   +1 more source

Hereditary multiple exostoses: A case report and literature review

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 ...
T. Ha, T. Ha, Mao Nguyen Van, Trong Binh Le, N. Le, Thao Nguyen Thanh, D. Ngo   +6 more
semanticscholar   +1 more source

Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT-2 gene deletion mutation

Molecular Medicine Reports, 2022
The aim of the present study was to report a clinical survey of hereditary multiple exostoses (HME) in a large Chinese pedigree, and the identification of a novel deletion mutation of exostosin glycosyltransferase 2 (EXT-2) gene.
Wentao Wang, Mingyuan Yang, Yuhang Shen, Kai Chen, Donghua Wu, Chang-wei Yang, Jinyi Bai, Da-wei He, Jun Gao   +8 more
semanticscholar   +1 more source

Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family

Medicina, 2022
Background and Objectives: Hereditary multiple exostoses (HME) is a disease characterized by cartilage-capped bony protuberances at the site of growth plates of long bones.
M. Ajmal, H. Muhammad, M. Nasir, M. Shoaib, S. Malik, Irfan Ullah   +5 more
semanticscholar   +1 more source

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

Orphanet Journal of Rare Diseases, 2021
Background Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin ...
Z. Al-Zayed, Roua A. Al-Rijjal, Lamya Al-Ghofaili, Huda A. BinEssa, R. Pant, Anwar M Alrabiah, Thamer Al-Hussainan, M. Zou, B. Meyer, Yufei Shi   +9 more
semanticscholar   +1 more source