Osteochondroma of the mandibular condyle: Resection and reconstruction using vertical sliding osteotomy of the mandibular ramus [PDF]
, 2009 Osteochondroma is one of the most common benign bone tumours, although not in the craniofacial region. More than half of these appear in the coronoid process.
Escrig de Teigeiro, M. +4 more
core
A novel nonsense mutation of EXT1 gene in an Argentinian patient with Multiple Hereditary Exostoses [PDF]
, 2012 Multiple hereditary exostoses (MHE), also known as multiple osteochondromatosis, is an autosomal-dominant O-linked glycosylation disorder recently classified as EXT1/EXT2-CDG in the congenital disorder of glycosylation (CDG)nomenclature.
Asteggiano, Carla Gabriela +9 more
core +1 more source
Chondrosarcoma in Metachondromatosis: A Rare Case Report
Acta Medica Iranica, 2018 Metachondromatosis which was first described in 1971 by Maroteaux is a rare genetic disease consisting of osteochondromas and enchondromas, caused by loss of function of the PTPN11 gene.
Khodamorad Jamshidi +2 more
doaj
Uncommon Presentation of a Rib Osteochondroma Misdiagnosed as a Breast Lesion: A Case Report
Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.Case Osteochondromas are common benign bone tumors. Rarely, these lesions present on the ribs and can be concerning for a breast mass. This case discusses a healthy 21‐year‐old female with a firm, fixed, painful breast mass. Her initial ultrasound and 6‐month follow‐up ultrasound were both benign.
Bailey R. Abernathy +5 more
wiley +1 more source
A broad spectrum of genomic changes in Latinamerican patients with EXT1/EXT2-CDG [PDF]
, 2018 Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas).
Asteggiano, Carla +10 more
core +4 more sources
Familiäre Tumorerkrankungen im Knochen [PDF]
, 2018 Zusammenfassung: Familiäre Erkrankungen, die zur Bildung von Knochentumoren führen, sind selten. Sie entwickeln sich im Zusammenhang mit genetischen Alterationen, die den Zellzyklus (Retinoblastomsyndrom/RB1, Li-Fraumeni-Syndrom/p53), wachstumssteuernde ...
Baumhoer, D., Jundt, G.
core
A Case of Hereditary Multiple Exostoses: Role of FNAC in diagnosis [PDF]
Perspectives In Medical ResearchHereditary Multiple Exostoses (HME) is a rare autosomal dominant bone disease. It is characterized with numerous benign osteochondromas, which grow outward from the metaphyses of long bones.
Annu Nanda +2 more
doaj +1 more source
DiseasesIntroduction: Hereditary multiple exostosis or hereditary multiple osteochondromas is a very rare clinical condition. Usually, these lesions tend to occur in the pediatric population, remaining silent until adulthood.
Corneliu Toader +5 more
doaj +1 more source
Dysplasia epiphysealis hemimelica: A histological comparative study with osteochondromas
Journal of Children's Orthopaedics, 2017 Purpose Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder resulting in epiphyseal overgrowth. Based on histological appearance, it is often described as an osteochondroma or osteochondroma-like lesion, although clinical differences
J. Stevens +4 more
doaj +1 more source
Haplotype Construction Using Embryos as Probands of the Pathogenic Variations in EXT1, CUL3, and HBA
Human Mutation, Volume 2026, Issue 1, 2026.Preimplantation genetic testing (PGT) represents a crucial strategy in the prevention of monogenic disorders, ensuring that only embryos free from these genetic conditions are implanted during assisted reproductive technologies. By analyzing the type of haplotypes of the variation of the probands or the carriers, we can significantly enhance the ...
Defeng Shu +5 more
wiley +1 more source