Results 11 to 20 of about 713 (172)

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

Gradual ulnar lengthening in children with multiple exostoses and radial head dislocation: Results at skeletal maturity [PDF]

Journal of Children's Orthopaedics, 2016
Purpose Deformities of the forearm and shortening of the ulna occur in 30 % of patients with hereditary multiple exostoses (HME), leading to radial head dislocation and loss of movement.
Riccardo D'Ambrosi, Alessia Barbato, Camilla Caldarini, Elena Biancardi, Renato Mario Facchini   +4 more
doaj   +4 more sources

Longitudinal Observation of Changes in the Ankle Alignment and Tibiofibular Relationships in Hereditary Multiple Exostoses [PDF]

Diagnostics, 2020
The longitudinal changes in the tibiofibular relationship as the ankle valgus deformity progresses in patients with hereditary multiple exostoses (HME) are not well-known.
Jae Hoo Lee, Chasanal Mohan Rathod, Hoon Park, Hye Sun Lee, Isaac Rhee, Hyun Woo Kim   +5 more
doaj   +3 more sources

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

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, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles, Carolina Sismani   +10 more
doaj   +2 more sources

Hereditary multiple exostoses: an educational review [PDF]

Insights into Imaging
Hereditary multiple exostoses (HME), an autosomal dominant disorder with an incidence of 1:50,000 to 1:100,000, is characterised by the formation of multiple osteochondromas arising from the metaphyses of long and flat bones.
Alvaro Rueda-de-Eusebio, Sara Gomez-Pena, María José Moreno-Casado, Gloria Marquina, Juan Arrazola, Ana María Crespo-Rodríguez   +5 more
doaj   +2 more sources

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole‐Exome Sequencing

Orthopaedic Surgery, 2020
Objective To find novel potential gene mutations other than EXT1 and EXT2 mutations, to expand the mutational spectrum of EXT and to explore the correlation between clinical outcome and genotype in patients with hereditary multiple exostoses (HME ...
Chao Liang, Yong‐jie Wang, Yu‐xuan Wei, Yang Dong, Zhi‐chang Zhang   +4 more
doaj   +2 more sources

Development of a prediction model for lower limb deformity in patients with hereditary multiple exostoses based on interpretable models and nomogram [PDF]

BMC Medical Informatics and Decision Making
Aim To investigate the impact of relevant factors on the occurrence of genu valgum and ankle valgus at admission in patients with hereditary multiple exostoses (HME) based on blood test results from the three months prior to admission, and to develop an ...
Rongbin Lu, He Ling, Zhao Huang, Wencai Li, Junjie Liu, Yonghui Lao, Qian Liu, Xiaofei Ding   +7 more
doaj   +2 more sources

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

Journal of Bone Oncology, 2018
Background: The most serious complication of hereditary multiple exostoses(HME) is chondrosarcoma transformation. Numerous authors have suggested that screening might allow early chondrosarcoma detection.
Li Fei, Clara Ngoh, Daniel E. Porter
doaj   +3 more sources

Antecubital Fossa Solitary Osteochondroma with Associated Bicipitoradial Bursitis

Case Reports in Orthopedics, 2015
Antecubital fossa lesions are uncommon conditions that present to the orthopaedic clinic. Furthermore, the radius bone is an uncommonly reported location for an osteochondroma, especially when presenting with a concurrent reactive bicipitoradial bursitis.
Colin Ng, Luigi Bibiano, Stephan Grech, Branko Magazinovic   +3 more
doaj   +2 more sources

Hereditary Multiple Exostoses of the Hip

Journal of Orthopaedic Surgery, 2009
Purpose. To assess the radiographic features of 36 hips with hereditary multiple exostoses (HME). Methods. Hip parameters of 12 males and 6 females (36 hips) aged 2 to 28 years with HME were assessed using anteroposterior radiographs.
Tarek AM El-Fiky, Wang Chow, Yun Hoi Li, Michael To   +3 more
doaj   +2 more sources