HR-pQCT revealed a significant reduction in volumetric BMD and microstructural parameters in the distal radius and tibia in both the OI and EOOP cohorts compared to the healthy controls.
Two unrelated boys presented with osteogenesis imperfecta due to point mutations in COL1A1 and were both subsequently found to have a 1 bp frameshift deletion in the Dystrophin gene at age 3 and age 15 years, respectively.
BMD, recurrent peripheral fractures and/or vertebral compression fractures) but who lacked the clinical features of osteogenesis imperfecta (OI) or other known syndromes linked to low BMD.Also 51 controls were analyzed.
A significant reduction of BMD was found in OI patients compared with normal relatives at the lumbar (L) spine (680 +/- 61 v 1,128 +/- 92 mg/cm2, P < .001), at the ultradistal radius ([UDR] 323 +/- 85 v 458 +/- 76, P < .006), at the femoral neck ([F] 494 +/- 140 v 791 +/- 104, P < .001), and at the junction of the distal and middle third of the radius ([MR] 639 +/- 71 v 717 +/- 52, P < .029).(ABSTRACT TRUNCATED AT 250 WORDS)