Ablin D S
Department of Radiology, University of California Davis Medical Center, Sacramento 95817, USA.
Can Assoc Radiol J. 1998 Apr;49(2):110-23.
The wide spectra of the clinical features, classification, genetics and imaging features of osteogenesis imperfecta (OI) are discussed, especially in the context of distinguishing the condition from child abuse. A broad general knowledge of the clinical and genetic aspects of the disease, as well as the imaging features of OI, is required for radiologists to knowledgeably provide the proper diagnosis and to participate responsibly in a team approach with geneticists, clinicians, lawyers and child protection services. There are 4 major types of OI, ranging from mild to severe. The diagnosis is made from clinical, genetic and radiographic features. The complications of OI and the use of bone mineral density measurements, collagen analysis and prenatal ultrasonography are presented. Their clinical relevance to the diagnosis of OI are discussed. Skin biopsy for collagen analysis may be needed to aid in the diagnosis in confusing or mild cases. It is important to distinguish OI from child abuse in order to protect an abused child or to avoid an improper accusation of child abuse in a child with obvious OI.
本文讨论了成骨不全症（OI）的临床特征、分类、遗传学和影像学特征的广泛范围，特别是在将该病症与虐待儿童相区分的背景下。放射科医生需要对该疾病的临床和遗传学方面以及OI的影像学特征有广泛的一般知识，以便能够明智地做出正确诊断，并与遗传学家、临床医生、律师和儿童保护服务机构以团队方式负责任地参与其中。OI有4种主要类型，从轻到重不等。诊断基于临床、遗传学和影像学特征。介绍了OI的并发症以及骨密度测量、胶原蛋白分析和产前超声检查的应用。讨论了它们与OI诊断的临床相关性。在诊断不明确或症状较轻的病例中，可能需要进行皮肤活检以进行胶原蛋白分析来辅助诊断。区分OI与虐待儿童很重要，以便保护受虐待的儿童，或避免对患有明显OI的儿童不当指控为虐待儿童。
