Limb Length Discrepancy and Osteogenesis Imperfecta: Preventable or Inevitable?

BACKGROUND

Osteogenesis imperfecta (OI) is a collagen-related disorder characterized by low bone mineral density, spine and limb deformities, and other extraskeletal manifestations. Surgical management is reserved for progressive long bone deformities and/or recurrent fractures. The preferred method of fixation is intramedullary rodding. Realigning long bone deformities typically entails one or more osteotomies and shortening of the bone to facilitate deformity correction. The surgery, therefore, could result in a limb length discrepancy (LLD). While LLD is commonly reported in OI, the prevalence and etiology of this discrepancy has not been widely investigated. Therefore, this study was designed to determine the prevalence and risk factors of LLD in children with OI. We also aimed to determine if LLD changed over time.

METHODS

We studied 78 children with OI who were treated at a single tertiary children's hospital. Thirty children were managed nonoperatively while 48 underwent intramedullary rodding of at least one lower extremity long bone. LLD was tracked longitudinally in all patients with the use of full-length anterior-posterior lower extremity radiographs. Patients included had a minimum of 2 years of longitudinal growth data. In addition, for the surgical group, a minimum of 18 of the 24 months of longitudinal growth data was in the postoperative period. LLD was defined as a difference in limb lengths (femur+tibia) of >5 mm.

RESULTS

LLD was present at some time-point in 90% of patients from the nonoperative group and 96% in the operative group. Mean LLD was 0.43 cm in the nonoperative group and 1 cm in the surgical group (P<0.001). There was no association between LLD and ambulation status nor in OI severity. In the surgical group, there was no association with LLD and the number of rods inserted. In both surgical and nonoperative groups, there were no specific growth patterns identified. Some patients' LLD stayed the same, some progressively worsened, and some improved.

CONCLUSIONS

The prevalence of LLD in OI children is >90% in all severities. Surgery was not an independent risk factor for LLD. The change of LLD over time in OI does not follow any typical growth pattern.

LEVEL OF EVIDENCE: Level III.