Results 51 to 60 of about 3,443 (208)

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

Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies

Frontiers in Genetics, 2021
Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas, represents a rare and severe human skeletal disorder. The disease is characterized by multiple benign cartilage-capped bony outgrowths, termed exostoses or ...
Ewelina Bukowska-Olech, Wiktoria Trzebiatowska, Wiktor Czech, Olga Drzymała, Piotr Frąk, Franciszek Klarowski, Piotr Kłusek, Anna Szwajkowska, Aleksander Jamsheer, Aleksander Jamsheer   +9 more
doaj   +1 more source

Multiple Hereditary Exostoses.

Radiologic technology, 2016
Multiple hereditary exostoses (MHE), also known as multiple osteochondromas, is an autosomal dominant disease that results in the development of osteochondromas throughout the body. The disease typically is diagnosed during childhood and requires lifelong monitoring and treatment of painful osteochondromas.
  +5 more sources

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

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

Current status of the torus palatinus and torus mandibularis [PDF]

, 2010
While there is a hereditary component to tori, this does not explain all cases. Tori tend to appear more frequently during middle age of life; the torus palatinus is more commonly observed in females, but this is not the case with the torus ...
García García, Andrés S., Gómez Font, Rafael, Martínez González, José María, Oviedo Roldán, Lucía, Soto Rivadeneira, Ángeles   +4 more
core   +1 more source

Pulmonary Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case

Case Reports in Radiology, Volume 2026, Issue 1, 2026.
Proteus syndrome is an uncommon, sporadic disorder characterized by progressive and heterogeneous overgrowth of tissues, resulting in distorted and asymmetric development. In most individuals, Proteus syndrome has minimal to no manifestations at birth but progresses during childhood and adolescence.
Cody Reid Johnson, Syed Muhammad Awais Bukhari, Amit Gupta, Atsushi Komemushi   +3 more
wiley   +1 more source

Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report

Journal of Current Ophthalmology
Purpose: To study rare ocular findings in a rare case of hereditary multiple exostoses (HME) and to study HME in one family. Methods: HME is an autosomal dominant genetic disease characterized by the presence of multiple exostoses (osteochondromas).
Shashi Tanwar, Nishtha Saini, Krutika Boriwal, Prashant Sharma   +3 more
doaj   +1 more source

Osteoblastic Osteosarcoma Arising beneath an Osteochondroma in an 11-Year-Old Male with Multiple Hereditary Exostoses

Case Reports in Orthopedics, 2018
Introduction. Multiple hereditary exostoses (MHE) is a rare autosomal dominant disorder characterized by the presence of multiple skeletal deformities. They are painless slow-growing lesions. Malignant transformation tends to occur later in adulthood and
Emmanuel Bukara, Alex M. Buteera, Robert Karakire, Felix Manirakiza, Samuel Muhumuza, Emmanuel Rudakemwa, Lynnette Kyokunda   +6 more
doaj   +1 more source

Two Siblings Followed Up for Hereditary Multiple Exostoses

Haseki Tıp Bülteni, 2014
Hereditary multiple exostoses is an autosomal dominant disease with abnormal bone formation especially at the long bones. Osteochondromas, which occur in the course of the disease, can cause growth disturbances in affected children.
Meltem Erol, Özgül Yiğit, Oktay Adanır, Mehmet Toksöz, Halis Narin, Veysel Gök, Dilek Borakay, Murat Konya   +7 more
doaj   +1 more source