Results 71 to 80 of about 1,805 (231)

Hereditary Multiple Exostoses with Ulnar Hemimelia

Proceedings, 2021
Hereditary Multiple Exostoses is a skeletal dysplasia that is very rare and defined by formation of numerous cartilage capped benign tumours either pedunculated or sessile known as osteochondromas throughout skeleton especially around the growth plates ...
Syed Wasif Ali Shah, Muhammad Abdul Shakoor, Usman Amjad, Haider Ali, Waleed Imtiaz, Shafqat Raza   +5 more
doaj   +1 more source

Myelopathy and Quadriparesis due to Spinal Cord Compression of C1 Laminar Osteochondroma [PDF]

, 2012
The aim of this paper is to show that osteochondromas of the cervical vertebrae can cause myelopathy and neck pain.The reported etiology, diagnosis, treatment and differential diagnosis were reviewed. Osteochondromas may present as a solitary lesion with
Albrecht, Baer-Henney, Calhoun, Cherubino, Clavel, Eaton, Khosla, Labram, Palmer, Prasad   +9 more
core   +2 more sources

An unusual example of hereditary multiple exostoses: a case report and review of the literature

BMC Musculoskeletal Disorders, 2021
Background Hereditary multiple exostoses (HME) is a rare skeletal disorder characterised by a widespread. distribution of osteochondromas originating from the metaphyses of long bones. Case presentation This case study examines a 55-year-old male cadaver
Rebecca Chilvers, James A. Gallagher, Nathan Jeffery, Alistair P. Bond   +3 more
doaj   +1 more source

Costal exostosis at risk of hepatic injury in a 10-year-old girl

Journal of Pediatric Surgery Case Reports, 2022
Hereditary multiple exostosis (HME) is a rare skeletal genetic disorder with multiple and disseminated osteochondromas. Costal localization is found in 40% of cases.
M. Doan, B. Tschopp, A. Binet, J.-M. Joseph, A. Bregou Bourgeois   +4 more
doaj   +1 more source

Multiple osteochondromas [PDF]

, 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
core   +3 more sources

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, Azar, Nydia Beatríz, Balcells, Susana, Delgado, María Andrea, Dodelson de Kremer, Raquel, Grinberg Vaisman, Daniel Raúl, Robledo, Hector Hugo, Sarrión, Patricia, Segura, Florencio Vicente, Zecchini, Lorena del Valle   +9 more
core   +1 more source

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG [PDF]

, 2014
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 Gabriela, Balcells, S., Delgado, M. A., Dodelson de Kremer, Raquel, Grinberg, D., Martinez Domenech, G., Robledo, H. H., Sarrión, P., Segura, F., Urreizti, R., Zecchini, L.   +10 more
core   +4 more sources

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Small sharp exostosis tip in solitary osteochondroma causing intermittent knee pain due to pseudoaneurysm

, 2014
Background: Complications of solitary or multiple osteochondromas are rare but have been reported in recent literature. Most reported complications arose in patients with multiple and/or sizable osteochondromas.
Bachhuber, D. (Dagmar), Gosheger, G. (Georg), Guder, W. (Wiebke), Hardes, J. (Jendrik), Henrichs, M. (Marcel-Philipp), Köhler, M. (Michael), Streitbürger, A. (Arne)   +6 more
core   +1 more source

Acral Mesenchymal Spindle Cell Neoplasm With a Novel HMGA2::NCOA2 Fusion

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Molecular profiling has revolutionized the field of soft tissue pathology, enhancing diagnostic precision and treatment strategies. The integration of molecular analysis and immunohistochemistry has been crucial for classifying diagnostically challenging acral mesenchymal neoplasms.
Grace Z. Armstrong, Carina A. Dehner, Eitan Halper‐Stromberg, Esther Baranov, Anna C. Eden, Rachel P. Kowal   +5 more
wiley   +1 more source