Results 51 to 60 of about 2,295 (157)

Chondrosarcoma in a family with multiple hereditary exostoses

, 2000
Multiple hereditary exostoses is an autosomal dominant skeletal disorder in which there are numerous cartilage-capped excrescences in areas of actively growing bone.
J. Kinnunen, A. Kivioja, I. Kaitila, H. Ervasti, M. Wolf, T. Böhling   +5 more
core   +1 more source

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

Positional cloning of a gene involved in hereditary multiple exostoses

, 1996
Hereditary multiple exostosis (EXT) is an autosomal dominant condition mainly characterized by the presence of multiple exostoses on the long bones, These exostoses are benign cartilaginous tumors (enchondromata).
McGaughran, J., Willems, P. J., Fransen, E, de Boulle, K., Van Hul, Wim, Vits, L., Halley, D.J.J., Wauters, J, Mallet, L, Nowak, NJ, Herrygers, I, Vits, L, deVries, BBA, Balemans, W, Herrygers, I., Nemtsova, M, Fransen, Erik, Bossuyt, P., Halley, DJJ, Coucke, P, Shows, TB, van Hul, E. V., Balemans, Wendy, van Hul, W., van den Ouweland, A.M.W., Balemans, W., Halley, D. J., van den Ouweland, A. M., Shows, T. B., Reyniers, E, Wuyts, Wim, vandenOuweland, AMW, Nowak, N.J., Mallet, L., Shows, T.B., Hendrickx, J., Wauters, Jan, de Vries, B. B., Coucke, P., Nowak, N. J., VanHul, W, DeBoulle, K, Nemtsova, M., de Vries, B.B.A., Reyniers, E., van Hul, E., VanHul, E, Hendrickx, J, McGaughran, J, Willems, P.J., Bossuyt, P, Willems, PJ, Fransen, E., Wauters, J., Wuyts, W, Wuyts, W.   +55 more
core   +1 more source

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

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

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

Radiographic findings in hereditary multiple exostoses and a new theory of the pathogenesis of exostoses.

, 1990
Analysis of 330 exostoses in 18 patients affected by hereditary multiple exostoses disease suggested a new classification of exostoses as eccentric or full-thickness.
Beluffi G, Savasta S., Pedrotti L, PAZZAGLIA, Ugo, Monafò V   +4 more
core   +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  

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

Non-Traumatic Fracture of an Osteochondroma Mimicking Malignant Degeneration in an Adult with Hereditary Multiple Exostoses

, 2008
A 38-year-old man with a known history of hereditary multiple exostoses and no history of trauma presented with a painful right femur mass. While the clinical presentation was concerning for malignant degeneration or a large overlying bursitis, the ...
Robbins, Matthew M., Kuo, Scott, Epstein, Robert   +2 more
core   +1 more source