Results 81 to 90 of about 6,285,374 (227)

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

Developmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.
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

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., Fernández-Alba Luengo, Javier, González, Sergio A., Navarro Cuéllar, C., Navarro Vila, C.   +4 more
core  

Primary Chest Wall Ewing Sarcoma With Diaphragmatic Invasion in an Adult: En‐Bloc Resection and Polypropylene Mesh Reconstruction

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Chest‐wall Ewing sarcoma (CWES) is uncommon in adults and often abuts vital thoracic structures, making R0 resection challenging despite gains with multimodal therapy. A 46‐year‐old Arab male presented with year‐long right‐sided chest pain, weight loss, and a firm mass over the lower right ribs.
Mohammad Alaa Aldakak, Ahmad Al‐Bitar, Raneem Ahmad, Hamza Alhallaq, Kinda Assoud, Hussain Chaban   +5 more
wiley   +1 more source

Complicaciones de los osteocondromas [PDF]

, 2009
Los osteocondromas o exostosis cartilaginosas son los tumores óseos más frecuentes, representando el 10-15 % de la totalidad. Parece ser más bien una alteración del desarrollo óseo más que un tumor verdadero.
Carpintero Benítez, Pedro, Carpintero, R., Fresno, J.A. del, Gálvez, M.J., Marín, M.A.   +4 more
core  

Rapid detection of carriers with and mutations using high resolution melting analysis [PDF]

, 2008
Background Germline inactivating mutations in BRCA1 and BRCA2 underlie a major proportion of the inherited predisposition to breast and ovarian cancer. These mutations are usually detected by DNA sequencing. Cost-effective and rapid methods to screen for
Elena A Takano, Gillian Mitchell, Stephen B Fox, Alexander Dobrovic, GH Reed, JP Struewing, S Neuhausen, BB Roa, B Gorski, IV Tereschenko, J Backe, I Konstantopoulou, E Machackova, T Anagnostopoulos, AR Solano, M Krypuy, M Krypuy, HA Risch, T Wagner, LS Chou, L Lonie, RL Margraf, ML Kennerson, J Montgomery, LC Gowen, SD Dufresne   +25 more
core   +2 more sources

Suspected Calvarial Hyperostosis Syndrome Causing Different Ophthalmological Signs in Two Young Labrador Retrievers—Case Report

Veterinary Ophthalmology, Volume 29, Issue 1, January 2026.
ABSTRACT Objective To describe calvarial hyperostosis syndrome (CHS) as a potential and unusual cause of exophthalmos or epiphora in young dogs. Animals Studied A nine‐month‐old female intact (case 1) and a two‐year‐old male intact Labrador Retriever (case 2). Procedures Patient history, including previous treatments, was documented.
Andrea Steinmetz, Stefan Kohl
wiley   +1 more source

PIP Joint Reconstruction for Proximal Phalanx Condyle Pseudarthrosis Using an Osteochondral Graft From the Fifth Metacarpal Base: A 10‐Year Case Report

Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.
Introduction Reconstruction methods for osteochondral defects of the proximal phalanx condyle are not well established, and data on long‐term clinical outcomes are limited. In many cases, joint preservation is abandoned in favor of arthrodesis or joint replacement.
Kazuki Imaishi, Makoto Motomiya, Mitsutoshi Ota, Naoya Watanabe, Keigo Yasui, Norimasa Iwasaki, Shashank Kaushik   +6 more
wiley   +1 more source

Spinal stenosis frequent in children with multiple hereditary exostoses

Journal of Children's Orthopaedics, 2013
Purpose Children with multiple hereditary exostoses (MHE) have numerous osteochondromas, with the most prominent lesions typically over the appendicular skeleton.
Ali Ashraf, A. Noelle Larson, Gabriela Ferski, Cary H. Mielke, Nicholas M. Wetjen, Kenneth J. Guidera   +5 more
doaj   +1 more source

Cervical Myelopathy Due to an Osteochondroma in Multiple Hereditary Exostosis

Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.
Hereditary multiple exostosis is a rare genetic condition characterized by the development of multiple exostoses. Vertebral localization is rare, less than 7%. Spinal cord compression in hereditary multiple exostosis is a rare condition. We report the case of a 22‐year‐old man with cervical spinal cord compression due to an osteochondroma with ...
Géraud Garcia Segbedji, Cédric Dongmo Mayopa, Xavier Banse, Pierre-Louis Docquier, Shashank Kaushik   +4 more
wiley   +1 more source

HSPG-deficient zebrafish uncovers dental aspect of multiple osteochondromas.

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, Zhe Zhao, Richard J P van Merkesteyn, Henry H Roehl, Pancras C W Hogendoorn   +4 more
doaj   +1 more source