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.

Anthropometric and Nutritional Parameters in Egyptian Children and Adolescents with Osteogenesis Imperfecta

“…The mean Ht SDS in both OI-III and OI-IV was below -2.5 SDS with a significant difference between OI-I and both OI-III and OI-IV, while a nonsignificant difference was detected between OI-III and OI-IV (p = 0.21). Our results of length and Ht SDSs in OI patients were in agreement with other studies [10,26,27,28] which found that many patients with OI-I and few with OI-IV had a Ht SDS within the reference interval, in contrast to those with OI-III who were mostly shorter than reference ranges.…”

“…It was suggested that in OI patients, combined growth hormone/bisphosphonate therapy improves bone mineral density, lumbar spine projected area, and growth velocity, particularly in severe cases [35]. In agreement with another study [28], the present study showed that mean Wt and BMI SDSs for all patients lay within the normal range. However, underweight and obesity were detected in 17.86 and 5.36% of patients with OI-III, respectively.…”

“…Macrocephaly was found in our patients with OI-III and OI-IV, but not with OI-I, with the highest mean HC SDS being in OI-III, which was confirmed by other studies [26,28]. The increased HC SDS values in OI-III and OI-IV are attributed to Ht reduction [26].…”

“…However, SH SDS was below normal in few patients with OI-I and many patients with OI-III and OI-IV, with a significant difference between OI-I compared to both OI-III and OI-IV, indicating that short stature in types III/IV is mainly caused by a reduction in truncal height, a finding that was also reported by other studies [10,28]. This can be attributed to platyspondyly, which is more common in OI types III and IV.…”

“…Regarding the type of short stature in our OI patients, unlike the results reported by Lund et al [10], but in agreement with another study [28], we did not find a significant difference in mean RAS between the different groups. However, SH SDS was below normal in few patients with OI-I and many patients with OI-III and OI-IV, with a significant difference between OI-I compared to both OI-III and OI-IV, indicating that short stature in types III/IV is mainly caused by a reduction in truncal height, a finding that was also reported by other studies [10,28].…”