Rapole Sanika, Mehta Bhavika, Sodhai Vivek
Department of Pediatric Orthopaedics, India.
Sancheti Institute for Orthopedics & Rehabilitation, Pune, India.
J Clin Orthop Trauma. 2024 Nov 28;60:102846. doi: 10.1016/j.jcot.2024.102846. eCollection 2025 Jan.
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.
进行性骨化性纤维发育不良（FOP）是一种罕见的遗传性疾病，其特征是肌腱、韧带、筋膜和骨骼肌进行性异位骨化，导致活动受限和生活质量下降。早期识别对于避免常由轻微创伤或医疗干预引发的病情发作至关重要。本报告介绍了两例早期诊断的FOP病例——一例6个月大，另一例18个月大——均具有典型特征和先天性大脚趾异常。早期检测有助于采取预防策略，提高患病儿童的生活质量和寿命。提高医疗专业人员对FOP独特表现的认识对于及时诊断至关重要。
