Results 11 to 20 of about 1,873 (147)
The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice [PDF]
American Journal of Medical Genetics, Part A, 2021 Multiple osteochondromas (MO) is a rare disorder, characterized by benign osteocartilaginous tumors (osteochondromas), arising from the perichondrium of bones.
Marina Mordenti +2 more
exaly +4 more sources
Orphanet Journal of Rare Diseases, 2008 Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. The prevalence is estimated at 1:50,000, and it seems to be higher in males (male-to-female ratio 1.5:1 ...
Bovée Judith VMG
doaj +2 more sources
Hereditary Cancer in Clinical Practice, 2004 Multiple Osteochondromas is an autosomal dominant disorder characterised by the presence of multiple osteochondromas and a variety of orthopaedic deformities.
Hameetman Liesbeth +4 more
doaj +2 more sources
Metachondromatosis: More than just multiple osteochondromas
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 +3 more
doaj +2 more sources
Multiple osteochondromas of the antlers and cranium in a free-ranging white-tailed deer (Odocoileus virginianus). [PDF]
PLoS ONE, 2017 This paper reports a case of multiple osteochondromas affecting the antlers and the left zygomatic bone of a free-ranging adult white-tailed buck (Odocoileus virginianus) from Georgia, USA.
Uwe Kierdorf +4 more
doaj +2 more sources
Archives of Plastic Surgery, 2017 Multiple osteochondromas (MO) is characterized by the formation of osteochondromas throughout the entire body. Although the evidence regarding its pathogenesis is well understood, no curative treatment for the disorder is available.
Vera Lidwina Negenborn +2 more
doaj +3 more sources
HSPG-deficient zebrafish uncovers dental aspect of multiple osteochondromas. [PDF]
PLoS ONE, 2012 Multiple Osteochondromas (MO; previously known as multiple hereditary exostosis) is an autosomal dominant genetic condition that is characterized by the formation of cartilaginous bone tumours (osteochondromas) at multiple sites in the skeleton ...
Malgorzata I Wiweger +4 more
doaj +2 more sources
Uncommon Presentation of a Rib Osteochondroma Misdiagnosed as a Breast Lesion: A Case Report. [PDF]
Case Rep OrthopCase 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.
Abernathy BR +4 more
europepmc +2 more sources
Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard. [PDF]
Eur J Hum Genet, 2023 Only a limited number of genetic diseases are diagnosable in archaeological individuals and none have had causal mutations identified in genome-wide screens. Two individuals from the Gaelic Irish medieval burial ground of Ballyhanna, Co.
Jackson I +4 more
europepmc +2 more sources
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas [PDF]
Molecular Genetics & Genomic Medicine, 2018 Isabela M P O Rizzo
exaly +2 more sources