Introduction 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. Subjects and methods 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.Results 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. Conclusions 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.

Osteogenesis imperfecta (OI) is a heritable skeletal disorder with bone fragility and often short stature. This study provides anthropometric measurements in Egyptian children with OI and determine variability among OI types classified according to Sillence et al. [Sillence et al. (1979); J Med Genet 16:101-116]. The study included 124 patients with OI. All were subjected to full clinical and radiological examination. Accordingly they were classified into types OI-I (N = 16), OI-III (N = 86), and OI-IV (N = 22) following Sillence classification. Five anthropometric measurements were taken for each patient including: length or standing height, weight, head circumference, arm span, and sitting height. Three indices were calculated: body mass index, relative head circumference, and relative arm span. Results show that mean height standard deviation scores (SDS) was significantly reduced in OI type III and IV compared to type I. Mean sitting height SDS was significantly reduced in OI-III than that of OI-I. Mean relative head circumference was significantly increased in OI-III than that in OI-I and OI-IV. Using anthropometry, this study was able to quantitatively assess the body physique in the different Sillence types of OI and the variability among them.