Basilar impression and osteogenesis imperfecta: a 21-year retrospective review of outcomes in 20 patients

Ibrahim, Ahmed; Crockard, H. A.

doi:10.3171/spi.2007.7.6.594

Cited by 10 publications

(17 citation statements)

References 23 publications

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“…(4,5) This view is corroborated by the observation that skull base abnormalities occur not only in OI but also in other conditions that decrease the mechanical resistance of bone, such as osteomalacia, HajduCheney syndrome, and Paget disease. (4,5) However, bone in OI is not ''soft'' but on the material level is even harder than normal bone, which makes OI bone more brittle. (16) Thus it appears more plausible to assume that repeated microcracks rather than ''bone softness'' lead to skull deformation in OI.…”

Section: Discussionmentioning

confidence: 87%

“…Therefore, the presence of a cranial base abnormality should be suspected, especially in short patients who present with suggestive signs and symptoms, such as headache, facial numbness, nystagmus, dysphagia, and ataxia. (4) Although little is known about the mechanisms leading to skull base abnormalities in OI, many authors assume that they are caused by the ''softness'' of the skull bone. (4,5) This view is corroborated by the observation that skull base abnormalities occur not only in OI but also in other conditions that decrease the mechanical resistance of bone, such as osteomalacia, HajduCheney syndrome, and Paget disease.…”

Section: Discussionmentioning

confidence: 99%

“…(4) Although little is known about the mechanisms leading to skull base abnormalities in OI, many authors assume that they are caused by the ''softness'' of the skull bone. (4,5) This view is corroborated by the observation that skull base abnormalities occur not only in OI but also in other conditions that decrease the mechanical resistance of bone, such as osteomalacia, HajduCheney syndrome, and Paget disease. (4,5) However, bone in OI is not ''soft'' but on the material level is even harder than normal bone, which makes OI bone more brittle.…”

Section: Discussionmentioning

confidence: 99%

“…(4,5) In the clinical setting, lateral skull radiographs usually are used to screen for cranial base abnormalities, and MRI is performed when abnormalities are found.…”

Section: Introductionmentioning

confidence: 99%

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Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants

Cheung

Arponen

Roughley

et al. 2010

Journal of Bone and Mineral Research

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Cranial base abnormalities are an important complication of osteogenesis imperfecta (OI), a hereditary bone fragility disorder that in most patients is caused by mutations affecting collagen type I. To elucidate which clinical characteristics are associated with the occurrence of cranial base abnormalities in OI, we compared cephalometric results of 187 OI patients (median age 12.0 years, range 3.4 to 47 years; 96 female) with those of 191 healthy subjects and related findings to clinical descriptors of the disease. Overall, 41 patients (22%) had at least one unambiguously abnormal skull base measure. Multivariate logistic regression analysis in patients with OI types I, III, and IV (n ¼ 169) revealed that height Z-score [odds ratio (OR) ¼ 0.53, 95% confidence interval (CI) 0.43-0.66, p < .001]-but not age, gender, scleral hue, lumbar spine areal bone mineral density, or a history of bisphosphonate treatment-was a significant independent determinant of skull base abnormalities. Among patients with a height Z-score below -3, 48% had a skull base abnormality regardless of whether they had received bisphosphonate treatment in the first year of life or not. Genotype-phenotype correlations were evaluated in patients with detectable mutations in COL1A1 or COL1A2, the genes coding for collagen type I (n ¼ 140). Skull base abnormalities were present in 6% of patients with haploinsufficiency (frameshift or nonsense) mutations, in 43% of patients with helical glycine substitutions caused by COL1A1 mutations, in 32% of patients with helical glycine substitutions owing to COL1A2 mutations, and in 17% of patients with splice-site mutations affecting either COL1A1 or COL1A2. However, multivariate logistic regression analysis showed that height Z-score but not the type of collagen type I mutation was independently associated with the prevalence of skull base abnormalities. In conclusion, this study shows that clinical severity of OI, as expressed by the height Z-score, was the strongest predictor of skull base abnormalities. We did not find evidence for the hypothesis that bisphosphonate treatment protects against skull base abnormalities. ß

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Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…(4,5) In the clinical setting, lateral skull radiographs usually are used to screen for cranial base abnormalities, and MRI is performed when abnormalities are found.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants

Cheung

Arponen

Roughley

et al. 2010

Journal of Bone and Mineral Research

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“…Deformative stress due to chronic flexion extension injuries were noted in patients with angulation of the brainstem [76,78,79,84] and attributed to the fulcrum effect of the medullo-spinal junction draped over the odontoid [17]. Deformative stress is evident in achondroplasia [85][86][87][88][89], platybasia [84,90,91], acquired bonesoftening conditions such as rickets, hyperparathyroidism, spondyloepiphyseal dysplasia, acroosteolysis, Hurler's Syndrome, osteomalacia, achondromalacia, renal osteodystrophy, Paget's disease, and degenerative conditions such as rheumatoid arthritis [35,51,72,[92][93][94][95][96][97][98][99] and osteogenesis imperfecta [100,101]. The horizontally tipped odontoid may deform the brainstem, especially in flexion [18,102].…”

Section: Cranio-cervical Anatomical Abnormalities That May Give Rise mentioning

confidence: 99%

Clinical and Finite Element Analysis of Acute Whiplash

Tannoury¹,

Rihn²,

Wilson³

et al. 2011

TOSPINEJ

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Study Design:A prospective 1-year follow-up study of whiplash patients presenting with neurological signs/or symptoms (WADIII), and whiplash patients with neck pain but no neurologic findings (WADI/II). Objective:We hypothesize that WADI/II and WADIII are distinct entities, with regards to clinical presentation, pathoanatomy, and prognosis.Summary of Background Data: symptoms associated with whiplash injury range from mild neck pain (WADI/II), to injuries associated with neurologic sequellae (WADIII). To date, literature considers whiplash associated disorders (WAD) a single clinical and pathologic entity, with different grades of severity (WADI-IV).Methods: Thirty one subjects were divided into a WADIII study group and a WADI/II comparison group. All subjects underwent H&P, radiographic evaluations, and clinical outcome measures (collected at 3, 6, and 12 months). Statistical analysis was performed (Student T-test, Wilcoxon Signed-Rank test) with significance set at p=0.05. A finite element analysis (FEA) technology (SCOSIA©) was used to predict stresses within the neuraxis.Results: At day 0: Better neurologic assessments, functional performances, and higher quality-of-life measurements were noted in WADI/II compared to WADIII. VAS scores were comparable.At 12 months: Both groups reported improvements in neurologic status and disability symptoms. However functional recovery and quality-of-life measures significantly improved in WADIII, and conversely deteriorated in WADI/II along with notable worsening of pain symptoms. Litigation claims were comparable. FEA predicted higher stress within the neuraxis of WADIII, notably in subjects with preexisting stenosis and odontoid retroflexion. Conclusion:WADI/II and WADIII are distinct entities. Musculoskeletal injury precipitates WADI/II pain symptoms while neuronal stretching leads to WADIII neurologic injuries, which are mostly recoverable.

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Cone‐Beam Computed Tomography of Osteogenesis Imperfecta Types III and IV: Three‐Dimensional Evaluation of Craniofacial Features and Upper Airways

et al. 2019

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This cross‐sectional study investigated the natural history of craniofacial deformities in osteogenesis imperfecta (OI) and determined the impact of three‐dimensional (3D) analysis on diagnosis and treatment planning in orthodontics and orthognathic surgery in comparison to conventional two‐dimensional (2D) cephalometric examination. 3D images of the craniofacial complex were acquired during 1 calendar year using cone‐beam computed tomography (CBCT) from a cohort of 41 individuals (aged 11 to 35 years; 28 females) with OI type III ( n = 13) or IV ( n = 28). 3D evaluation of the craniocervical junction and upper airways was conducted using InVivo TM . 2D lateral cephalogram was constructed, traced, and examined using the University of Western Ontario analysis (Dolphin TM ). Quantitative and qualitative parameters were compared between OI type III and type IV groups (unpaired t test) and the unaffected population ( Z ‐score). 3D evaluation revealed a high prevalence of craniocervical abnormalities, craniofacial asymmetries, and nasal septum deviation in both OI groups. Mean airway dimensions were comparable to the non‐affected population norms, except for 5 individuals who had insufficient airway dimensions. In 2D, the maxilla was retrognathic and hypoplastic, and the mandibular position was convergent with respect to the face, resulting in mandibular prognathism and face height reduction. The 2D trends were more pronounced in OI type III, whereas the 3D craniocervical and airway abnormalities were common in both types. This study illustrates the prevalence of craniofacial and airway anomalies in OI that occur along with facial deformities are not associated with postcranial phenotype and OI type, are apparent only in 3D evaluation, and are likely to influence treatment strategy. For OI patients, a team effort involving a dentist, orthodontist, neurologist, and ear‐nose‐throat (ENT) practitioner is recommended for successful management of craniofacial deformities. © 2018 The Authors JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.

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Basilar impression and osteogenesis imperfecta: a 21-year retrospective review of outcomes in 20 patients

Cited by 10 publications

References 23 publications

Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants

Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants

Clinical and Finite Element Analysis of Acute Whiplash

Cone‐Beam Computed Tomography of Osteogenesis Imperfecta Types III and IV: Three‐Dimensional Evaluation of Craniofacial Features and Upper Airways

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