Osteogenesis imperfecta in childhood: MR imaging of basilar impression

Janus, Guus; Engelbert, Raoul; Beek, Erik; Gooskens, R. H. J. M.; Pruijs, J. E. H.

doi:10.1016/s0720-048x(02)00179-1

Cited by 35 publications

(34 citation statements)

References 15 publications

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“…To our knowledge, the presence of skull base abnormalities in OI type V has not been reported before. For the other OI types, the prevalence of skull base abnormalities found in this study appears to be within the range reported in the literature, even (14) In our study population, a much higher proportion of patients, 37%, would have fulfilled these criteria. In contrast, the prevalence of skull base abnormalities in our study was clearly lower than suggested by Sillence, who reported that ''25% of a relatively random group of clinic patients with OI had basilar invagination,'' based on a Chamberlain measure above 5 mm or a McGregor measure above 7 mm.…”

Section: Discussionsupporting

confidence: 83%

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: Discussionsupporting

confidence: 83%

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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“…Extraskeletal manifestations are diverse, related as they are to the ubiquitous presence of type I collagen in the human body: blue sclerae (mainly in type I OI); a greyish or yellowish aspect of the teeth, also called “dentinogenesis imperfecta” (mainly in type III OI); skin fragility; joint and ligament hyperlaxity; early hypoacusia; and cardiovascular abnormalities (particularly aortic valve disease) [3, 4, 8]. Less frequently, neurological abnormalities related to basilar impression and platybasia (mainly in type IV OI) or to direct involvement of neurovascular structures may be encountered [9, 10]. …”

Section: Postnatal Diagnosis Of Oimentioning

confidence: 99%

Radiographic features of osteogenesis imperfecta

et al. 2013

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BackgroundOsteogenesis imperfecta (OI), commonly called “brittle bone disease”, is a genetic disorder characterised by increased bone fragility and decreased bone density due to quantitative and/or qualitative abnormalities of type I collagen. Different types of OI exist, from mild to severe; they may lead to death, multiple bone fractures, skeletal deformity and short stature.MethodsSevere cases are usually diagnosed before birth and may incite the parents to choose therapeutic abortion, whereas milder cases are much more difficult to diagnose and may be sometimes confused with non-accidental injury (NAI) (“child abuse”) in young children. Whatever the degree of severity, conventional radiography still remains the mainstay in diagnosing OI.ResultsThe prognosis of this disorder has changed in the last few years thanks to biphosphonate therapy.ConclusionThe aim of this pictorial review is to illustrate the radiographic manifestations of OI, including in children receiving biphosphonates, and to outline specific patterns that help differentiate OI from NAI when necessary.Key Points• The main radiographic features of OI are osteopenia, bone fractures and bone deformities.• Some radiographic features depend on the type of OI or may be encountered with biphosphonates.

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“…It is recommended that children with symptoms be referred for neurosurgical evaluation and CT and MRI imaging. Janus et al 64 reported that periodic MRI scans did not influence the clinical decision-making process. 3.…”

Section: Screeningmentioning

confidence: 99%