成骨不完美|症状和原因
What are the symptoms of osteogenesis imperfecta?
各种形式的成骨不完美（OI）的主要症状是骨骼脆弱性，导致经常骨折。根据美国国立卫生研究院（NIH）的一部分，骨质疏松症和相关骨骼疾病国家资源中心（NIH），有四种主要类型的OI，每种症状都有不同的症状。
Type I: the mildest and most common type — usually inherited
- bones断裂easily
- most fractures occur before puberty (adult women will occasionally have fractures after menopause)
- 通常可以通过家庭追踪
- near normal stature or slightly shorter
- blue or blue-gray sclera (the normally white area of the eyeball)
- 牙齿问题（牙齿发生不完美）
- 听力损失从20岁或30多岁开始
- triangular shape to face
- spinal curvature
Type II: the most severe type — frequently life-threatening
- newborns severely affected
- 通常是由新基因突变引起的
- 身材极小；胸部极度矮小；肺部欠发达
Type III: severe type — usually no family history
- 断裂s at birth very common
- X射线可能揭示了子宫中发生的骨折的愈合
- severe early hearing loss
- 胳膊和腿部的关节松动和肌肉发育不良
- barrel-shaped rib cage
Type IV: moderate type — often traced through family lines
- bones fracture easily — most before puberty
- 正常或接近正常的巩膜
- teeth may or may not be involved
- spinal curvature
- 松散的关节
是什么引起骨化不完美的？
The most common forms of OI are inherited and can usually be traced through the family.
成骨不完美|Diagnosis & Treatments
How is osteogenesis imperfecta diagnosed?
The first step to treating your child’s osteogenesis imperfecta (OI) is to form a timely, complete and accurate diagnosis.
OI is usually diagnosed in infancy or early childhood. To diagnose your child’s OI, the doctor conducts a physical exam. During the exam, the doctor takes your child’s complete prenatal, birth and family medical history.
Tools for diagnosing osteogenesis imperfecta can include:
- a complete medical history and physical exam (including ear, nose and throat exam to detect hearing loss*)
- X射线
- DNA血液测试
- DXA骨密度扫描
What are the treatment options for osteogenesis imperfecta?
迄今为止，还没有已知的治疗方法，药物或手术可以治愈骨化的不完美，但是对该疾病的治疗旨在：
- 纠正并预防断裂和畸形
- 让您的孩子尽可能独立地运作
预防或纠正症状的治疗方法可能包括以下内容：
- 手术以进行重复出现断裂s，鞠躬，scoliosis
- surgery to maintain your child's ability to sit or stand
- Rodding（插入简单或伸缩金属杆（Fassier Duval Rod）的最小侵入性程序（Fassier Duval Rod）长骨的长度以稳定并防止畸形）
- 辅助设备，例如轮椅，支撑和其他定制设备
- dental procedures
- 物理疗法
- medications (for pain and for bone strength)
- psychological counseling
成骨剂不完美的儿童的长期前景是什么？
成骨不完美是一种严重的终身状况，需要通过跨学科的医学方法来管理，以最大程度地提高孩子的生活质量和功能。该条件在解剖学，医学和社会心理学水平上提出了复杂的挑战。
然而，有OI的孩子可以长大，过着充实的，富有成效的生活。