{"title":"Clinical and radiological insights into fibrodysplasia ossificans progressiva: A report on two cases.","authors":"Sanika Rapole, Bhavika Mehta, Vivek Sodhai","doi":"10.1016/j.jcot.2024.102846","DOIUrl":null,"url":null,"abstract":"<p><p>Fibrodysplasia ossificans progressiva (FOP) is a rare genetic illness marked by progressive heterotopic ossification of tendons, ligaments, fascia, and skeletal muscle, leading to immobility and reduced quality of life. Early recognition is critical to avoiding flare-ups often triggered by trivial trauma or medical interventions. This report presents two early-diagnosed FOP cases-one at 6 months, the other at 18 months-both with typical features and congenital great toe abnormalities. Early detection enables preventive strategies that enhance the quality and longevity of affected children's lives. Increased awareness among healthcare professionals about the unique presentation of FOP is vital for prompt diagnosis.</p>","PeriodicalId":53594,"journal":{"name":"Journal of Clinical Orthopaedics and Trauma","volume":"60 ","pages":"102846"},"PeriodicalIF":0.0000,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11663994/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Orthopaedics and Trauma","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.jcot.2024.102846","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic illness marked by progressive heterotopic ossification of tendons, ligaments, fascia, and skeletal muscle, leading to immobility and reduced quality of life. Early recognition is critical to avoiding flare-ups often triggered by trivial trauma or medical interventions. This report presents two early-diagnosed FOP cases-one at 6 months, the other at 18 months-both with typical features and congenital great toe abnormalities. Early detection enables preventive strategies that enhance the quality and longevity of affected children's lives. Increased awareness among healthcare professionals about the unique presentation of FOP is vital for prompt diagnosis.
期刊介绍:
Journal of Clinical Orthopaedics and Trauma (JCOT) aims to provide its readers with the latest clinical and basic research, and informed opinions that shape today''s orthopedic practice, thereby providing an opportunity to practice evidence-based medicine. With contributions from leading clinicians and researchers around the world, we aim to be the premier journal providing an international perspective advancing knowledge of the musculoskeletal system. JCOT publishes content of value to both general orthopedic practitioners and specialists on all aspects of musculoskeletal research, diagnoses, and treatment. We accept following types of articles: • Original articles focusing on current clinical issues. • Review articles with learning value for professionals as well as students. • Research articles providing the latest in basic biological or engineering research on musculoskeletal diseases. • Regular columns by experts discussing issues affecting the field of orthopedics. • "Symposia" devoted to a single topic offering the general reader an overview of a field, but providing the specialist current in-depth information. • Video of any orthopedic surgery which is innovative and adds to present concepts. • Articles emphasizing or demonstrating a new clinical sign in the art of patient examination is also considered for publication. Contributions from anywhere in the world are welcome and considered on their merits.