Results 11 to 20 of about 1,735 (162)

Metachondromatosis: More than just multiple osteochondromas [PDF]

Journal of Children's Orthopaedics, 2013
Introduction Metachondromatosis is a rare genetic disease of osteochondroma and enchondroma formation, caused by loss of function of the PTPN11 gene. It is distinct from other similar conditions such as multiple osteochondromas and hereditary multiple ...
Thomas J. Fisher, Nicole Williams, Lloyd Morris, Peter J. Cundy   +3 more
doaj   +4 more sources

Modified osteotomy for treatment of forearm deformities (Masada IIb) in hereditary multiple osteochondromas: a retrospective review [PDF]

BMC Musculoskeletal Disorders, 2021
Purpose Approximately 30% of patients with hereditary multiple osteochondromas (HMO) have forearm deformity and dysfunction. The aim of this retrospective study was to review our experience with the surgical treatment of children with HMO and Masada IIb ...
Ge Yan, Guoxin Nan
doaj   +2 more sources

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis [PDF]

Frontiers in Genetics, 2020
Multiple osteochondromas (MO), the most common type of benign bone tumor, is an autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony protuberances.
Ye Wang, Liangying Zhong, Yan Xu, Yan Xu, Lei Ding, Yuanjun Ji, Sacha Schutz, Sacha Schutz, Claude Férec, Claude Férec, David N. Cooper, Caixia Xu, Jian-Min Chen, Yanmin Luo   +13 more
doaj   +2 more sources

The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice [PDF]

American Journal of Medical Genetics, Part A, 2021
Elena Pedrini, Marina Mordenti, Maria Gnoli   +2 more
exaly   +2 more sources

Subacromial osteochondroma and rotator cuff tear in a young adult with multiple osteochondromas. [PDF]

JSES Rev Rep Tech, 2022
Spasojevic M, Mackenzie SP, Young A, Cass B.   +3 more
europepmc   +7 more sources

A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas [PDF]

Genes
Elena Pedrini, Serena Corsini, Alice Moroni   +2 more
exaly   +2 more sources

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas [PDF]

Molecular Genetics & Genomic Medicine, 2018
Isabela Rizzo
exaly   +2 more sources

An unusual diagnosis for an usual test

Italian Journal of Pediatrics, 2020
Background Hereditary multiple osteochondromas (HMO) is a genetic condition characterized by the presence of multiple osteochondromas, usually at the lateral side of the most active growth plate of a long bone.
Andrea Trombetta, Vanessa Migliarino, Flavio Faletra, Egidio Barbi, Gianluca Tornese   +4 more
doaj   +1 more source

Pseudoaneurysm Complicating Proximal Humeral Exostosis: A Case Report of a Missed Diagnosis on Computed Tomography Angiographic Examination

Case Reports in Orthopedic Research, 2022
Vascular complications of osteochondromas of the humerus are extremely rare. Only 9 cases with pseudoaneurysms of the brachial artery complicating osteochondromas of the humerus were reported in 7 English articles.
Ashraf A. Khanfour, Ahmed S. Gaweesh, Tamer Y. Gaweesh   +2 more
doaj   +1 more source

Two Siblings Followed Up for Hereditary Multiple Exostoses

Haseki Tıp Bülteni, 2014
Hereditary multiple exostoses is an autosomal dominant disease with abnormal bone formation especially at the long bones. Osteochondromas, which occur in the course of the disease, can cause growth disturbances in affected children.
Meltem Erol, Özgül Yiğit, Oktay Adanır, Mehmet Toksöz, Halis Narin, Veysel Gök, Dilek Borakay, Murat Konya   +7 more
doaj   +1 more source