一个孩子的非典型的纤维发育不良骨渐进性:一个病例报告
Abdullah Noufal1, Yaman Alsharef2, Aya Abou Alainein2
1ASPU (AlSham Private University), Damascus, Syria.
International journal of surgery case reports
|July 15, 2025
概括
早期识别Fibrodysplasia Ossificans Progressiva (FOP) 是至关重要的. 这种罕见的遗传性疾病需要遗传确认,以避免误诊和不正确的治疗造成的阳性损害.
科学领域:
- 医学遗传学 医学遗传学
- 罕见疾病 罕见疾病
- 骨发育不良症 骨发育不良症
背景情况:
- 纤维发育性骨渐进性 (FOP) 是一种罕见的遗传性疾病.
- 它的特点是渐进的异型骨化和先天性骨异常.
研究的目的:
- 突出早期承认FP的重要性.
- 要强调错误诊断和侵袭性干预在FOP患者的风险.
- 为了强调FOP的遗传确认的必要性.
主要方法:
- 一个12岁男孩患有FOP和罕见的先天性异常的病例报告.
- 审查患者的临床表现,错误诊断和管理.
- 基因检测证实了ACVR1基因的突变.
主要成果:
- 该患者呈现了标志性FOP特征和罕见的先天性异常,如双边微.
- 误诊为肌肉衰竭导致不适当的管理和状况恶化.
- 基因测试证实了ACVR1基因中的异构基突变 (c.617G>A; p.R206H).
结论:
- 早期识别非典型的先天性形对于FOP诊断至关重要.
- 对错误诊断的FOP进行侵入性干预可能会导致阳性损害.
- 对于适当的患者管理,FOP的遗传确认是必不可少的.
相关概念视频
Bone Disorders
4.0K
Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
4.0K
Bone Formation by Endochondral Ossification
5.5K
Bone formation, or ossification, begins around the sixth to seventh week of embryonic development. Most bones develop from a cartilaginous template through the process of endochondral ossification. Cartilage formation begins when clusters of mesenchymal cells differentiate into chondrocytes. These chondrocytes proliferate rapidly and secrete an extracellular matrix that becomes encased in a membrane called the perichondrium. The resulting cartilage model provides a template that resembles the...
5.5K
Bone Formation by Intramembranous Ossification
7.6K
Intramembranous ossification is one of the two processes involved in the development of bones within an embryo. The flat bones of the face, most of the cranial bones, and the clavicles are formed via this process. During intramembranous ossification, the bones develop directly from sheets of undifferentiated mesenchymal connective tissue.
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into ...
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into ...
7.6K
Fractures: Bone Repair
3.7K
Treatment for a fracture is based on the type of break, the bone affected, and the patient's age.
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the...
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the...
3.7K
Disorders of the Skeletal Muscle
1.1K
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
1.1K


