Results 31 to 40 of about 1,897 (144)

A Case of Hereditary Multiple Exostoses: Role of FNAC in diagnosis [PDF]

Perspectives In Medical Research
Hereditary Multiple Exostoses (HME) is a rare autosomal dominant bone disease. It is characterized with numerous benign osteochondromas, which grow outward from the metaphyses of long bones.
Annu Nanda, Qury Sabita Mahapatra, Shalini Trivedi   +2 more
doaj   +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

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

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

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 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

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  

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