Results 31 to 40 of about 1,735 (162)

Osteochondroma: ignore or investigate?

Revista 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, Rosalvo Zósimo Bispo Júnior   +1 more
doaj   +1 more source

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

Frontiers 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, Wiktoria Trzebiatowska, Wiktor Czech, Olga Drzymała, Piotr Frąk, Franciszek Klarowski, Piotr Kłusek, Anna Szwajkowska, Aleksander Jamsheer, Aleksander Jamsheer   +9 more
doaj   +1 more source

Prevalence of Osteochondromas in the Spine in Patients with Multiple Hereditary Exostoses

JBJS Open Access
Background:. Multiple hereditary exostoses (MHE) is an autosomal-dominant disorder characterized by the development of multiple cartilage-capped exostoses originating from the physis that are known as osteochondromas.
Carlos Monroig-Rivera, MD, Lauren Bockhorn, MD, David Thornberg, BS, Brenda Santillan, BS, Karl E. Rathjen, MD   +4 more
doaj   +1 more source

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

Advances 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, Fan Jiang, Reggie C. Hamdy, Thierry E. Benaroch, Martin Lavigne, Neil Saran   +5 more
doaj   +1 more source

No Haploinsufficiency but Loss of Heterozygosity for EXT in Multiple Osteochondromas [PDF]

The American Journal of Pathology, 2010
Multiple osteochondromas (MO) is an autosomal dominant disorder caused by germline mutations in EXT1 and/or EXT2. In contrast, solitary osteochondroma (SO) is nonhereditary. Products of the EXT gene are involved in heparan sulfate (HS) biosynthesis. In this study, we investigated whether osteochondromas arise via either loss of heterozygosity (2 hits ...
Reijnders, C.M.A., Waaijer, C.J.F., Hamilton, A., Buddingh, E.P., Dijkstra, S.P.D., Ham, J., Bakker, E., Szuhai, K., Karperien, M., Hogendoorn, P.C.W., Stringer, S.E., Bovee, J.V.M.G.   +11 more
openaire   +4 more sources

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source

Endoscopic Resection of Exostosis at the Medial Border of Scapula

Arthroscopy Techniques, EarlyView.
Abstract Scapular exostoses are rare, and ventral lesions are more common than dorsal lesions. Scapular exostoses can cause symptoms including pain and mechanical crepitus due to scapulothoracic bursitis, decreased active range of motion, “pseudowinging” of the scapula and snapping scapula.
Tun Hing Lui, Florence Ou Suet Pang
wiley   +1 more source

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

Frontiers 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, Manila Boarini, Fabio D’Alessandro, Elena Pedrini, Manuela Locatelli, Luca Sangiorgi   +5 more
doaj   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

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, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +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, T. J. M. Welting, A. M. Witlox, L. W. van Rhijn, H. M. Staal   +4 more
doaj   +1 more source