Results 61 to 70 of about 8,544 (222)
Palovarotene inhibits osteochondroma formation in a mouse model of multiple hereditary exostoses
Journal of Bone and Mineral Research, 2017 Multiple hereditary exostoses (MHE), also known as multiple osteochondromas (MO), is an autosomal dominant disorder characterized by the development of multiple cartilage‐capped bone tumors (osteochondromas). The large majority of patients with MHE carry
T. Inubushi +3 more
semanticscholar +1 more source
The Pan African Medical Journal, 2013 Vascular complications from osteochondroma are rare and include essentially stenosis, occlusion, and pseudoaneurysms. The others report a original case of intraoperative rupture of undiagnosed popliteal artery pseudoaneurysm during resection surgery for ...
Rita Hajji +4 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1989-1999, September 2026.ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George +11 more
wiley +1 more source
Indian Spine Journal, 2022 Intraspinal osteochondroma causing neurological manifestations is a rare condition and can present as either solitary osteochondroma or more commonly as a part of multiple hereditary exostoses. We report a case of osteochondroma arising from lamina of C2
Janardhana P Aithala
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 8, August 2026.ABSTRACT Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder characterized by the development of multiple osteochondromas adjacent to the growth plates. Although skeletal deformities and palpable masses are common findings, chronic pain may represent an early and underappreciated diagnostic clue, particularly in pediatric
Melissa Mariti Fraga +7 more
wiley +1 more source
PLoS Genetics, 2017 Hereditary Multiple Exostoses (HME) is a rare pediatric disorder caused by loss-of-function mutations in the genes encoding the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2.
Sayantani Sinha +9 more
semanticscholar +1 more source
Rib Exostoses Presenting as Mediastinal Masses: A Rare Presentation and Minireview of the Literature
Case Reports in Medicine, 2020 Costal osteocartilaginous exostoses, also known as osteochondromas, are the most common neoplasms of the long bones but are rare tumors of the ribs. Osteochondroma is often asymptomatic and incidentally observed.
Doina Butcovan +6 more
doaj +1 more source
Acta Anaesthesiologica Scandinavica, Volume 70, Issue 7, August 2026.ABSTRACT Background Postoperative complications substantially increase morbidity, mortality and healthcare costs. Understanding prognostic factors is essential for risk stratification, targeted prevention strategies, and development of prediction models.
Anders Peder Højer Karlsen +15 more
wiley +1 more source
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families
Prague Medical Report, 2017 Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our
Karel Medek +9 more
doaj +1 more source
Health Science Reports, Volume 9, Issue 7, July 2026.ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem +9 more
wiley +1 more source