Scoliosis and Cardiopulmonary Outcomes in Osteogenesis Imperfecta Patients

Study Design. Retrospective clinical study of individuals with osteogenesis imperfecta (OI). Objective. To assess the relationship between severity of scoliosis and pulmonary function, and to assess the relationship between restrictive lung disease and self-reported quality of life in individuals with OI. Summary of Background Data. OI is a heritable connective tissue disorder characterized by osteopenia and a predisposition to fracture. Respiratory insufficiency is a leading cause of mortality. Literature on pulmonary function in this population has shown a negative correlation between percent-predicted vital capacity and severity of scoliosis. However, it has been suggested that decreased pulmonary function in OI may be due to intrinsic pulmonary disease, in addition to the impact of vertebral compression fractures and scoliosis. Methods. Anterior-posterior spine radiographs and pulmonary function tests from 30 individuals with OI were reviewed. Radiographs were evaluated for scoliosis, defined as a curve ≥ 10°. If more than one curve was present, the largest curve was used. Pulmonary function was defined as the forced expiratory volume in 1 second (FEV1)/forced vital capacity (FVC) ratio. Restrictive pulmonary disease was defined as FEV1/FVC > 80%, while obstructive disease was defined as FEV1/FVC 
Source: Spine - Category: Orthopaedics Tags: DEFORMITY Source Type: research

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Abstract BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous group of collagen-related disorders characterized by osteopenia, bone fractures, spine deformities, and nonskeletal complications. Cardiopulmonary complications are the major cause of morbidity and mortality in adults with OI. The cause of such problems was often attributed solely to the presence of large scoliosis curves affecting pulmonary function and, indirectly, cardiovascular health. However, recent studies suggest this may not be the case. Therefore, determining the relationships and causative agents of cardiopulmonary problems in patients...
Source: Clinical Orthopaedics and Related Research - Category: Orthopaedics Authors: Tags: Clin Orthop Relat Res Source Type: research
Conclusion: The dramatic difference between the phenotypes of these 2 cases is significant because it is the largest known variability of phenotypic presentation in siblings. Previous cases of siblings with differing presentations at birth have been reported, but the extent of these differences is not as extreme as in our cases. Because Bruck syndrome presents similarly to osteogenesis imperfecta and could be clinically mistaken for a form of osteogenesis imperfecta if contractures are minimal, a reasonable focus for research efforts is the development of genetic diagnostic protocols for osteogenesis imperfecta with the go...
Source: Ochsner Journal - Category: General Medicine Tags: Ochsner J Source Type: research
We examined the relationship between scoliosis (Cobb angle  ≥ 10) and type of OI (Sillence classification: types I, III, and IV), physical mobility,Z-scores of bone mineral density in L2 –4 of the lumbar spine (L2–4 BMDZ-scores), age of patients at first treatment with PAM, pelvic frontal tilt and leg-length discrepancy. The prevalence of scoliosis was 23.5% in 34 young children with OI who underwent PAM therapy for a mean of 4.2 years. Lower L2 –4 BMDZ-scores, the presence of coronal and sagittal vertebral deformities and higher percentage of corrective osteotomy in the lower extremities...
Source: Journal of Bone and Mineral Metabolism - Category: Orthopaedics Source Type: research
Authors: Wallace MJ, Kruse RW, Shah SA Abstract Osteogenesis imperfecta is a genetic disorder of type I collagen. Although multiple genotypes and phenotypes are associated with osteogenesis imperfecta, approximately 90% of the mutations are in the COL1A1 and COL1A2 genes. Osteogenesis imperfecta is characterized by bone fragility. Patients typically have multiple fractures or limb deformity; however, the spine can also be affected. Spinal manifestations include scoliosis, kyphosis, craniocervical junction abnormalities, and lumbosacral pathology. The incidence of lumbosacral spondylolysis and spondylolisthesis is h...
Source: The Journal of the American Academy of Orthopaedic Surgeons - Category: Orthopaedics Tags: J Am Acad Orthop Surg Source Type: research
Bisphosphonates are widely used to treat children with osteogenesis imperfecta (OI), a bone fragility disorder that is most often caused by mutations in COL1A1 or COL1A2. However, it is unclear whether this treatment decreases the risk of developing scoliosis. We retrospectively evaluated spine radiographs and charts of 437 patients (227 female) with OI caused by mutations in COL1A1 or COL1A2 and compared the relationship between scoliosis, genotype and bisphosphonate treatment history. At the last follow-up (mean age 11.9 [SD: 5.9] years), 242 (55%) patients had scoliosis.
Source: Bone - Category: Orthopaedics Authors: Source Type: research
Bisphosphonates are widely used to treat children with osteogenesis imperfecta (OI), a bone fragility disorder that is most often caused by mutations in COL1A1 or COL1A2. However, it is unclear whether this treatment decreases the risk of developing scoliosis. We retrospectively evaluated spine radiographs and charts of 437 patients (227 female) with OI caused by mutations in COL1A1 or COL1A2 and compared the relationship between scoliosis, genotype and bisphosphonate treatment history. At the last follow-up (mean age 11.9 [SD: 5.9] years), 242 (55%) patients had scoliosis.
Source: Bone - Category: Orthopaedics Authors: Tags: Full Length Article Source Type: research
Bisphosphonates are widely used to treat children with osteogenesis imperfecta (OI), a bone fragility disorder that is most often caused by mutations in COL1A1 or COL1A2. However, it is unclear whether this treatment decreases the risk of developing scoliosis. We retrospectively evaluated spine radiographs and charts of 437 patients (227 female) with OI caused by mutations in COL1A1 or COL1A2 and compared the relationship between scoliosis, genotype and bisphosphonate treatment history. At the last follow-up (mean age 11.9 [SD: 5.9] years), 242 (55%) patients had scoliosis.
Source: Bone - Category: Orthopaedics Authors: Tags: Full Length Article Source Type: research
Abstract: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder that leads to bone weakness and deformities, especially in the spine, which can lead to poor outcomes. The aim of this study was to find patterns and risk factors in spinal deformities in patients with OI. In a retrospective study, 70 patients with OI were selected. Radiographs of the spine were evaluated. We observed the presence or absence of the following changes: biconcave vertebrae, chest and vertebral deformities, unilateral rib, and thoracolumbar kyphosis. The greater curve was considered the primary one, and the secondary curve consid...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Diagnostic Accuracy Study Source Type: research
Conclusions: FD rods are safe and pose no risk of migration, heating effects, or artifact when undergoing an MRI of the spine using a 1.5 T magnet. With the introduction of magnet strengths higher than 1.5 T, further testing should be performed. Level of Evidence: Level IV.
Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Selected Topics Source Type: research
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