Anthropometric measurements in Egyptian patients with osteogenesis imperfecta

Abstract

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.