Results 51 to 60 of about 219 (121)

The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses

Clinical Case Reports, 2022
To identify the pathogenic gene variation in a Chinese family with Hereditary Multiple Exostoses (HME). By examining blood‐sourced DNA and clinical manifestations of the proband and his family members, the whole exome sequencing (WES) and Sanger ...
Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu   +4 more
doaj   +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

Hereditary multiple exostoses: an educational review

Insights into Imaging
Hereditary multiple exostoses (HME), an autosomal dominant disorder with an incidence of 1:50,000 to 1:100,000, is characterised by the formation of multiple osteochondromas arising from the metaphyses of long and flat bones.
Alvaro Rueda-de-Eusebio, Sara Gomez-Pena, María José Moreno-Casado, Gloria Marquina, Juan Arrazola, Ana María Crespo-Rodríguez   +5 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

Orthopedic preoperative evaluation and surgical strategies of hereditary multiple osteochondromas involving the spinal region

EFORT Open Reviews
Hereditary multiple osteochondromas (HMO), previously known as hereditary multiple exostoses (HME), is a congenital skeletal developmental anomaly characterized by multiple osteochondromas that commonly grow outward from the metaphyses of long bones ...
Shuzhong Liu, Jinyi Xing, An Song, Xi Zhou, Yong Liu   +4 more
doaj   +1 more source

Solitary Metacarpal Osteochondroma; an Unusual Location

Medicine Science, 2014
Although, osteochondroma is the most common bone tumor, metacarpal involvement is quite uncommon and usually accompanies multiple hereditary exostoses.
Aziz Atik, Selahattin Ozyurek, Ozkan Kose, Kenan Koca, Ferhat Guler   +4 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

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

Do plantar calcaneal spurs make the plantar aponeurosis enthesis stronger? A biomechanical analysis

Journal of Anatomy, Volume 248, Issue 4, Page 591-597, April 2026.
Novel testing set up for determining enthesial avulsion parameters. Donor calcanei were dissected to isolate the central band of the plantar fascia, and mounted in a custom 3D‐printed rig (Fig A, B, C) for uniaxial tensile testing of the plantar fascia enthesis (Fig D). This study demonstrated no significant differences in the avulsion parameters, Fmax
Joanna Tomlinson, Kai Chun Li, Johann Zwirner   +2 more
wiley   +1 more source

Hereditary multiple exostoses [PDF]

, 2020
  +6 more sources