Results 61 to 70 of about 2,247 (190)

Hereditary Multiple Exostoses and Orthopaedist- Till the Plausible Management Evolves [PDF]

Journal of Clinical and Diagnostic Research, 2019
Introduction: Hereditary Multiple Exostoses (HME) is an inherited genetic skeletal disorder of enchondral bone. It is an autosomal dominant disorder affecting juxtaepiphyseal region of the long bones and includes multiple exostoses.
Pankaj Kumar Mishra, Amol Dubepuria, Sanjiv Gaur   +2 more
doaj   +1 more source

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas

Therapeutics and Clinical Risk Management, 2016
Susan Akbaroghli,1,* Maryam Balali,2,* Behnam Kamalidehghan,3,4 Siamak Saber,4 Omid Aryani,5 Goh Yong Meng,6 Massoud Houshmand4 1Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, 2ENT and Head & Neck Research Center ...
Akbaroghli S, Balali M, Kamalidehghan B, Saber S, Aryani O, Yong Meng G, Houshmand M   +6 more
doaj  

Exploring Pelvic Changes: Do Pregnancy and Birth Leave Scars?

American Journal of Biological Anthropology, Volume 189, Issue 4, April 2026.
ABSTRACT Objectives Selected pelvic features, formerly “parturition scars,” have long been interpreted as osteological indicators of pregnancy and childbirth, presumably caused by biomechanical stresses. Yet, most evidence derives from archaeological collections lacking detailed documented reproductive histories.
Anja Catic, Lukas Waltenberger, Katharina E. Pink, Doris Pany‐Kucera, Barbara Fischer, Julia Hummel Jimenez, Andrea Maier, Pascal Baltzer, Engelbert Hanzal, Barbara Bodner‐Adler, Florian Heinzl, Wolfgang Umek   +11 more
wiley   +1 more source

Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity

Clinical Case Reports, Volume 14, Issue 4, April 2026.
Archibald's metacarpal sign is characterized by dimpling over the knuckles when the fist is clenched, resulting from relative shortening of the fourth and fifth metacarpals compared with the third. ABSTRACT Turner syndrome (TS) often presents with subtle or overlooked clinical signs, contributing to frequent diagnostic delays. We describe the case of a
Maria Chiara Pellegrin, Gianluca Tamaro, Alice Fachin, Egidio Barbi, Gianluca Tornese   +4 more
wiley   +1 more source

A RARE CASE OF HEREDITARY MULTIPLE EXOSTOSES

, 2022
Background: A rare genetic condition, hereditary multiple exostoses (HME), follows the autosomal dominant pattern of inheritance. It is evident by multiple bony elevations on the appendicular skeleton by the age of 2 years.
SHETTY, APOORVA, PUNIA, VPS, JEYARAMAN, MADHAN, MITTAL, SHAAVI, CHAUDHARY, DUSHYANT, MISHRA, PRAVEEN RAMAN, BHARTI, AKASH   +6 more
core   +1 more source

Total knee arthroplasty in patients with multiple hereditary exostoses

Arthroplasty Today, 2018
We present a case report of a patient with severe valgus deformity of the right knee due to multiple hereditary exostoses (MHEs) treated with total knee arthroplasty (TKA). The surgical management of MHE affecting the knee encompasses exostoses resection,
Samuel A. Fernandez-Perez, MD, Julio A. Rodriguez, Jr., BS, David Beaton-Comulada, MD, Roberto G. Colon-Miranda, MD, Antonio H. Soler-Salas, MD, Antonio Otero-Lopez, MD   +5 more
doaj   +1 more source

Presence of IDH2 and TP53 mutations significantly reduces survival of patients with chondrosarcoma

Cancer, Volume 132, Issue 7, 1 April 2026.
Abstract Background Chondrosarcoma (CS) has a prognosis largely influenced by tumor grade. Although IDH mutations have been reported in CS, impact on patient`s survival remains controversial. This study aims to assess prognostic relevance of IDH mutations on disease‐specific survival (DSS), metastasis‐free survival (MFS), and local recurrence‐free ...
Anne Weidlich, Klaus‐Dieter Schaser, Tareq A. Juratli, Jessica Pablik, Sven Märdian, Kathrin Hauptmann, Philipp Schwabe, Stephan Richter, Hagen Fritzsche   +8 more
wiley   +1 more source

A gene for hereditary multiple exostoses maps to chromosome 19p

, 1994
Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones.
Legeai-Mallet, Laurence, Jeannin, Patricia Margaritte, Schinzel, Albert, Le Merrer, Marline, Toutain, Annick; https://orcid.org/, Achard, Frédéric, Munnich, Arnold, Maroteaux, Pierre, Horsthemke, Bernhard, Plauchu, Henri   +9 more
core   +1 more source

Multiple Hereditary Exostoses [PDF]

HSS Journal®: The Musculoskeletal Journal of Hospital for Special Surgery, 2005
Carolyn M, Sofka, Gregory R, Saboeiro, Robert, Schneider   +2 more
openaire   +3 more sources

The Extracellular Matrix Across States: From Homeostasis to Dysfunction in Rare Connective Tissue Disorders

Proteoglycan Research, Volume 4, Issue 2, April 2026.
ABSTRACT The extracellular matrix (ECM) provides a dynamic environment in which the fine balance between biosynthesis, degradation and/or maturation of matrix components critically governs its structure and function. It is well established that the ECM plays a central role not only in the physiological functions of tissues, but also in the pathogenesis
Roméo M. Diana, Sandrine Gulberti, Catherine Bui   +2 more
wiley   +1 more source