Results 31 to 40 of about 1,873 (147)

A Unique Case of Hereditary Multiple Osteochondromas in the Feet

open access: yes, 2023
This report describes the differential diagnosis of osseous growths in the first metatarsals of an adult male previously unreported in the literature.
Kamnikar, Kelly   +3 more
core   +1 more source

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas [PDF]

open access: yes, 2018
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively.
Vilaseca, M. A.   +14 more
core   +3 more sources

Multiple osteochondromas in a 16th–19th century individual from Setúbal (Portugal) [PDF]

open access: yes, 2014
An archaeological survey at the church of Nossa Senhora da Anunciada (Setúbal, Portugal) uncovered the remains of 92 individuals. Historical and archaeological data suggest that the inhumations occurred between 1531 and 1839. The present work reports the
Antunes-Ferreira, Nathalie   +2 more
core   +1 more source

Reconstruction of the Hip in Multiple Hereditary Exostoses

open access: yesChildren, 2021
The hip joint involvement in multiple hereditary exostoses (MHE) occurs in 30–90%, causing pain and limitation of motion by femoroacetabular impingement, coxa valga, acetabular dysplasia, hip joint subluxation, and osteoarthritis.
Dong Hoon Lee, Dror Paley
doaj   +1 more source

Hereditary multiple osteochondromas

open access: yesPortuguese Journal of Pediatrics
A three-year-old boy’s mother reports the appearance of painless swelling at the right tibia’s proximal end, with one year of evolution, without previous trauma or local/systemic inflammatory signs, namely fever or lymphadenopathy.
João R. Nunes-Pires   +2 more
doaj   +1 more source

Osteochondroma: ignore or investigate?

open access: yesRevista Brasileira de Ortopedia, 2014
Osteochondromas are bone protuberances surrounded by a cartilage layer. They generally affect the extremities of the longbones in an immature skeleton and deform them. They usually occur singly, but a multiple form of presentation may be found. They have
Antônio Marcelo Gonçalves de Souza   +1 more
doaj   +1 more source

Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies

open access: yesFrontiers in Genetics, 2021
Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas, represents a rare and severe human skeletal disorder. The disease is characterized by multiple benign cartilage-capped bony outgrowths, termed exostoses or ...
Ewelina Bukowska-Olech   +9 more
doaj   +1 more source

Intraosseous Atypical Chondroid Tumor or Chondrosarcoma Grade 1 in Patients with Multiple Osteochondromas

open access: yes, 2015
Background: The autosomal dominant condition multiple osteochondromas, formerly called multiple hereditary exostoses, is associated with a risk of malignant progression of osteochondroma into secondary peripheral chondrosarcoma.
Ham, John   +5 more
core   +1 more source

Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations

open access: yesFrontiers in Pharmacology, 2022
Disease registries have been used as an interesting source of real-world data for supporting regulatory decision-making. In fact, drug studies based on registries cover pre-approval investigation, registry randomized clinical trials, and post ...
Marina Mordenti   +5 more
doaj   +1 more source

Hip Joint Osteochondroma: Systematic Review of the Literature and Report of Three Further Cases

open access: yesAdvances in Orthopedics, 2014
The aim of this study is to systematically review the literature with regards to surgical treatment of patients with hip joint osteochondromas, and to report our surgical management of three paediatric patients who had femoral neck or acetabular ...
Asim M. Makhdom   +5 more
doaj   +1 more source

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