Results 41 to 50 of about 17,263 (169)

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

A rare case of co-existence of hereditary multiple exostoses and steroid-sensitive nephrotic syndrome

Journal of Pre-Clinical and Clinical Research, 2023
Introduction. Hereditary multiple exostoses (HME) is a rare autosomal dominant disorder, caused primarily by loss of function mutations in 2 genes EXT1 and EXT2 linked to the synthesis of heparan sulfate (HS).
Tomasz Szawłoga, Anna Strzoda, Aleksandra Sobieszczańska   +2 more
semanticscholar   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Ankle Mortise Instability in Multiple Hereditary Exostoses

Foot & Ankle Orthopaedics, 2019
Category: Ankle, Ankle Arthritis, Pediatric Foot and Ankle Introduction/Purpose: Ankle valgus has been reported in 50% of patients with multiple hereditary exostoses (MHE) and, untreated, results in early arthrosis. Widening of the ankle mortise has also
M Pierce Ebaugh DO, Greg Grenier DO, Satbir Singh, Oussama Abousamra MD, Kevin Klingele MD   +4 more
doaj   +1 more source

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

Giant Osteochondroma of Tibia in a Case of Hereditary Multiple Exostoses: A Case Report

International journal of research and review, 2023
Osteochondromas, aka exostoses, are benign neoplasms of the cartilage. Genetic mutations of the EXT1 and EXT2 genes leads to a syndrome causing multiple osteochondromas, namely the hereditary multiple exostoses.
Serene Balaji P
semanticscholar   +1 more source

Leveraging Point‐Of‐Care Ultrasound to Diagnose a Rare Arterial Occlusive Thrombus in a Child: A Case Study

Journal of Clinical Ultrasound, EarlyView.
This case report illustrates the successful use of ultrasound imaging of arterial thrombosis in a child following orthopedic surgery, where regular diagnosis was difficult due to the presence of metallic orthopedic frames. ABSTRACT Pediatric arterial thromboembolism is an extremely rare and serious complication, especially rare when it is noncatheter ...
Vrushali C. Ponde, Neha Singh, Ashok N. Johari, Hanna Smeds, Karen Boretsky   +4 more
wiley   +1 more source

Hereditary Multiple Exostoses: A Case Report

Scholars Journal of Medical Case Reports, 2023
Background: Hereditary Multiple Exostoses (HME) is a rare bone disease, usually associated with deformity and pressure symptoms. It is an autosomal dominant disorder characterized by the development of benign tumors growing outward from the metaphyses of
A. Laaribi, M. Lahrach, F. Akhatar, M. Zyani, H. Sallahi, Y. Benyass, O. Margad   +6 more
semanticscholar   +1 more source

Prevalence of Oral Alterations and Correlation Between Oral and Cutaneous Neurofibromas in Neurofibromatosis Type 1: A Retrospective Case–Control Study

Journal of Oral Pathology &Medicine, EarlyView.
ABSTRACT Objective The aim of this study was to determine the prevalence of oral alterations detectable through physical examination in NF1 individuals. Additionally, we assessed the correlation between the number of oral and cutaneous neurofibromas. Design This retrospective study evaluated oral alterations in individuals with and without NF1.
Pâmella de Pinho Montovani, Gabriela Pizão Werneck Moreira da Costa, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +3 more
wiley   +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