Aglan Mona S, Hosny Laila, El-Houssini Rasha, Abdelhadi Sawsan, Salem Fadia, Elbanna Rokia A S, Awad Seham A, Zaki Moushira E, Temtamy Samia A
Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, El-Buhouth Street, Dokki, Cairo, 12311 Egypt.
J Child Orthop. 2012 Mar;6(1):29-35. doi: 10.1007/s11832-012-0385-3. Epub 2012 Feb 8.
Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and fractures. Patients with OI have clinical features that may range from mild symptoms to severe bone deformities and neonatal lethality. Numerous approaches for the classification of OI have been published. The Sillence classification is the most commonly used. In this study, we aimed at developing a more refined sub-classification by applying a proposed scoring system for the quantitative assessment of clinical severity in different types of OI.
This study included 43 patients with OI. Clinical examination and radiological studies were conducted for all patients. Cases were classified according to the Sillence classification into types I-IV. The proposed scoring system included five major criteria of high clinical value: number of fractures per year, motor milestones, long bone deformities, length/height standard deviation score (SDS), and bone mineral density (BMD). Each criterion was assigned a score from 1 to 4, and each patient was marked on a scale from 1 to 20 according to these five criteria.
Applying the proposed clinical scoring system showed that all 11 patients with Sillence type I (100%) had a score between 6 and 10, denoting mild affection. The only patient with Sillence type II had a score of 19, denoting severe affection. In Sillence type III, 7 patients (31.8%) were moderately affected and 15 patients (68.2%) were severely affected. Almost all patients with Sillence type IV (88.9%) were moderately affected.
Applying the proposed scoring system can quantitatively reflect the degree of clinical severity in OI patients and can be used in complement with the Sillence classification and molecular studies.
成骨不全症（OI）是一种以骨骼脆弱和易骨折为特征的遗传性疾病。OI患者的临床特征范围广泛，从轻微症状到严重的骨骼畸形以及新生儿致死率。已经发表了许多OI的分类方法。Sillence分类是最常用的。在本研究中，我们旨在通过应用一种提议的评分系统来开发一种更精细的亚分类，以定量评估不同类型OI的临床严重程度。
本研究纳入了43例OI患者。对所有患者进行了临床检查和影像学研究。病例根据Sillence分类分为I - IV型。提议的评分系统包括五个具有高临床价值的主要标准：每年骨折次数、运动发育里程碑、长骨畸形、身高标准差评分（SDS）和骨密度（BMD）。每个标准被赋予1至4分，根据这五个标准为每位患者在1至20分的量表上打分。
应用提议的临床评分系统显示，所有11例Sillence I型患者（100%）的得分在6至10分之间，表明病情较轻。唯一的Sillence II型患者得分为19分，表明病情严重。在Sillence III型中，7例患者（31.8%）病情中度受累，15例患者（68.2%）病情严重受累。几乎所有Sillence IV型患者（88.9%）病情中度受累。
应用提议的评分系统可以定量反映OI患者的临床严重程度，可与Sillence分类和分子研究互补使用。
