Craniocervical abnormalities in osteogenesis imperfecta type V

Ludwig, Karissa; Seiltgens, Cristian; Ibba, A; Saran, Neil; Ouellet, Jean; Glorieux, Francis H.; Rauch, Frank

doi:10.1007/s00198-021-06088-x

Cited by 5 publications

(7 citation statements)

References 22 publications

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“…45 The low BMD and bone quality in BI might result from the complication of osteogenesis imperfecta and related osteochondrodysplasias, and these so-called "bone softening" disorders further contributed to progressive deformity and neurological dysfunction. 46,47 It should be noted that the gold standard for the assessment of BMD is the dual-energy x-ray absorptiometry (DXA). Studies have found a correlation between HU values and BMD based on DXA.…”

Section: Discussionmentioning

confidence: 99%

“…Besides, Goel A and B types, which were the diagnosis of BI, might be associated with lower BMD. The mean HU value in the BI cohort was 226.21±121.78, which was higher than the determination for osteoporosis, with a HU interval value of 90.9 to 138.7.45 The low BMD and bone quality in BI might result from the complication of osteogenesis imperfecta and related osteochondrodysplasias, and these so-called “bone softening” disorders further contributed to progressive deformity and neurological dysfunction [ 46 , 47 ].…”

Section: Discussionmentioning

confidence: 99%

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Characteristics and Comparisons of Morphometric Measurements and Computed Tomography Hounsfield Unit Values of C2 Laminae for Translaminar Screw Placement Between Patients With and Without Basilar Invagination

et al. 2022

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Objective: Patients with basilar invagination (BI) had high incidences of vertebral variations and high-riding vertebral artery (HRVA) that might restrict the use of pedicle or pars screw and increase the use of translaminar screw on axis. Here, we conducted a radiographic study to investigate the feasibility of translaminar screws and the bone quality of C2 laminae in patients with BI, which were compared with those without BI as control to provide guidelines for safe placement.Methods: In this study, a total of 410 patients (205 consecutive patients with BI and 205 matched patients without BI) and 820 unilateral laminae of the axis were included at a 1:1 ratio. Comparisons with regard to insertion parameters (laminar length, thickness, angle, and height) for C2 translaminar screw placement and Hounsfield unit (HU) values for the assessment of the appropriate bone mineral density of C2 laminae between BI and control groups were performed. Besides, the subgroup analyses based on the Goel A and B classification of BI, HRVA, atlas occipitalization, and C2/3 assimilation were also carried out. Furthermore, the factors that might affect the insertion parameters and HU values were explored through multiple linear regression analyses.Results: The BI group showed a significantly smaller laminar length, thickness, height, and HU value than the control group, whereas no significant difference was observed regarding the laminar angle. By contrast, the control group showed significantly higher rates of acceptability for unilateral and bilateral translaminar screw fixations than the BI group. Subgroup analyses showed that the classification of Goel A and B, HRVA, atlas occipitalization, and C2/3 assimilation affected the insertion parameters except the HU values. Multiple linear regression indicated that the laminar length was significantly associated with the male gender (B = 0.190, p < 0.001), diagnoses of HRVA (B = -0.109, p < 0.001), Goel A (B = -0.167, p < 0.001), and C2/3 assimilation (B = -0.079, p = 0.029); the laminar thickness was significantly associated with the male gender (B = 0.353, p < 0.001), diagnoses of HRVA (B = -0.430, p < 0.001), Goel B (B = -0.249, p = 0.026), and distance from the top of odontoid to the Chamberlain line (B = -0.025, p = 0.003); laminar HU values were significantly associated with age (B = -2.517, p < 0.001), Goel A (B = -44.205, p < 0.001), Goel B (B = -25.704, p = 0.014), and laminar thickness (B = -11.706, p = 0.001).Conclusion: Patients with BI had narrower and smaller laminae with lower HU values and lower unilateral and bilateral acceptability for translaminar screws than patients without BI. Preoperative 3-dimensional computed tomography (CT) and CT angiography were needed for BI patients.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Characteristics and Comparisons of Morphometric Measurements and Computed Tomography Hounsfield Unit Values of C2 Laminae for Translaminar Screw Placement Between Patients With and Without Basilar Invagination

et al. 2022

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“…The potential risks of deformity include the effect on the anatomy of the cranio-cervical junction, including basilar invagination, and the presence in some cases of structural abnormalities of the cervical spine, e.g. severe cervical kyphosis [ 12 •, 13 ]. Therefore, families should be shown how to vary the position of the infant’s head, and to manage any torticollis, to minimise the degree of deformity [ 2 ].…”

Section: Early Postnatal Management Of the Infant With Severe Osteoge...mentioning

confidence: 99%

Early Life Management of Osteogenesis Imperfecta

Arundel,

Borg

2023

Curr Osteoporos Rep

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Purpose of Review This review aims to provide a review of the multidisciplinary management of infants with osteogenesis imperfecta (OI) during the first year of life, focusing on those with severe disease. The authors draw on published literature and direct experience of working in a large paediatric centre specialising in the management of rare bone disease. Recent Findings Whilst understanding of the pathophysiology of OI has grown over the past decade, the evidence base for management of infants remains limited. There has been a greater recognition of certain subjects of concern including pain management, cervical spine deformity, and neurocognitive development. Both international consensus guidelines on rehabilitation and disease-specific growth charts have been welcomed by clinical teams. Summary The early involvement of multidisciplinary specialist care is critical in ensuring optimal care for the infant with severe OI. A long-term perspective which focuses on the axial, craniofacial, and peripheral skeleton as well as on development more generally provides a framework which can guide the management of infants with severe OI.

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“…Osteogenesis Imperfecta (OI) is a congenital hereditary disorder characterized by the presence of osteopenia and increased bone fragility [ 3 , 4 ]. The literature reports alterations of the cranial base in affected patients, producing a flattening of the anterior cranial base that results in the approach of the odontoid process to the foramen magnum.…”

Section: Introductionmentioning

confidence: 99%

“…Although these alterations do not always present symptomatology [ 12 ], adolescence (11–15 years) seems to be the most common age of presentation of these alterations since this is when basilar impression progresses most [ 9 ]. CCJ alterations have been studied as a cause of death in cases of patients with OI, finding in the case of type III and V OI a high percentage of basilar invagination and respiratory deaths [ 3 , 13 ]. In order to avoid or eliminate the associated neurological symptoms, the literature includes some surgical techniques such as posterior fossa decompression with or without instrumentation, transoral or endonasal decompression with posterior occipitocervical fission, or gravity traction of the halo with posterior instrumentation [ 5 , 14 , 15 ].…”

Section: Introductionmentioning

confidence: 99%

Influence of the Severity of Osteogenesis Imperfecta on Cranial Measurements

2023

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Osteogenesis Imperfecta (OI) is a disease that causes bone fragility and deformities, affecting both the cranial base and the craniocervical junction, and may lead to other neurological disorders. A retrospective cross-sectional study was carried out based on cephalometric analysis of the cranial base in a sample of patients with OI, in lateral skull radiographs and magnetic resonance imaging (MRI), comparing them with a sample of age-matched controls. When the different variables of the craniocervical junction were analyzed, significance was found in comparisons with the different age groups. All measurements of the variables studied stabilized as growth progressed. For most of the variables, the severity of the disease influences the measurements of the skull base, with statistically significant differences. Both age and severity of the disease are factors that directly influence the anatomy of the craniocervical junction in these patients and may serve as indicators in the early detection and prevention of other derived alterations.

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Craniocervical abnormalities in osteogenesis imperfecta type V

Cited by 5 publications

References 22 publications

Characteristics and Comparisons of Morphometric Measurements and Computed Tomography Hounsfield Unit Values of C2 Laminae for Translaminar Screw Placement Between Patients With and Without Basilar Invagination

Characteristics and Comparisons of Morphometric Measurements and Computed Tomography Hounsfield Unit Values of C2 Laminae for Translaminar Screw Placement Between Patients With and Without Basilar Invagination

Early Life Management of Osteogenesis Imperfecta

Influence of the Severity of Osteogenesis Imperfecta on Cranial Measurements

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