Skull base abnormalities in osteogenesis imperfecta: a cephalometric evaluation of 54 patients and 108 control volunteers

Kovero, Outi; Pynnönen, Seppo; Kuurila-Svahn, Kaija; Kaitila, Ilkka; Waltimo‐Sirén, Janna

doi:10.3171/jns.2006.105.3.361

Cited by 68 publications

(90 citation statements)

References 24 publications

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“…The healthy control group consisted of 191 subjects (103 female, 88 male; ages 3 to 59 years) who had participated in two previously described studies, (6,7) both conducted at the Institute of Dentistry, University of Helsinki, Finland. These studies were approved by the Ethics Committee of the Institute of Dentistry, University of Helsinki, and the Joint Ethical Committee of the Helsinki University Central Hospital.…”

Section: Healthy Subjectsmentioning

confidence: 99%

“…The DM distance represents the perpendicular distance of the tip of the dens from a parallel line to the nasion-sella line passing through the most caudal part of the posterior cranial bone. (6) Any distance of the dens above the respective line used for each measure was denoted as a positive value. Measurements were obtained from radiographs to the closest 1 mm or 1 degree by two independent observers, and the average result of the two observers was used for further analysis.…”

Section: Cephalometric Analysesmentioning

confidence: 99%

“…The need for age-specific controls for young children was based on earlier observations that most of the skull base measures vary with age during childhood but remain constant in healthy subjects aged 9 years and older. (9) We used the definitions and diagnostic criteria established by Kovero and colleagues (6) (Fig. 2…”

Section: Cephalometric Analysesmentioning

confidence: 99%

“…The radiographic criteria for basilar impression are fulfilled if the Chamberlain measure, the McGregor measure, or the DM distance are elevated by more than 3 SDs above the average of age-matched healthy controls. (6) Platybasia-a flat anterior cranial base angle (nasion-sellabasion angle). Platybasia was diagnosed when the anterior cranial base angle was more than 3 SDs above the average of healthy controls.…”

Section: )mentioning

confidence: 99%

“…However, as pointed out by Kovero and colleagues, protrusion of the odontoid process into the foramen magnum (basilar invagination), position of the odontoid process far above the caudal borders of the skull (basilar impression), and a flat anterior cranial base angle (platybasia) can occur independent of each other and therefore should be regarded as clearly separate entities. (6) At present, there is little information on which clinical characteristics are associated with the occurrence of cranial base abnormalities in OI. In this study we therefore examined 187 pediatric and adult OI patients for the presence of cranial base abnormalities and related findings to patient characteristics such as type of collagen type I mutation, age, clinical phenotype, bone density, and treatment with intravenous bisphosphonates.…”

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: Healthy Subjectsmentioning

confidence: 99%

Section: Cephalometric Analysesmentioning

confidence: 99%

Section: Cephalometric Analysesmentioning

confidence: 99%

Section: )mentioning

confidence: 99%

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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Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype

Semler

Cheung

Glorieux

et al. 2010

American J of Med Genetics Pt A

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The presence of a larger than usual number of Wormian bones (accessory skull bones completely surrounded by a suture line) is a well-known radiographic sign of osteogenesis imperfecta (OI), but the phenotypic and genotypic correlates are not well characterized. In the present study we retrospectively analyzed skull radiographs of 195 OI patients (median age 11.8 years, range 0.4-48 years; 100 female). A significant number of Wormian bones (SNWB, defined as the presence of 10 or more Wormian bones) were found in at least one patient in all of the OI types studied (I, III to VII). SNWB were observed in 35% of patients with OI type I, in 96% of patients with OI type III and 78% of patients with OI type IV. SNWB were present in 28% of patients with haploinsufficiency (nonsense and frameshift) mutations in COL1A1, in 96% of patients with helical glycine substitutions in the alpha 1 chain of collagen type I and in 72% of patients with helical glycine substitutions in the alpha 2 chain of collagen type I. Stepwise multivariate logistic regression analysis showed that height z-score, an indicator of disease severity, was inversely related with the prevalence of SNWB. SNWB were visible in 19 of the 26 patients who had skull radiographs in the first year of life, including a 2-week-old newborn. Thus, it appears that SNWB occur more frequently in more severely affected OI patients and seem to develop mostly in utero.

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Japanese patient with Cole‐carpenter syndrome with compound heterozygous variants of SEC24D

Takeyari

Kubota

Miyata

et al. 2018

American J of Med Genetics Pt A

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Cole‐Carpenter syndrome is a rare skeletal dysplasia associated with low‐bone mass or an osteogenesis imperfecta (OI)‐like syndrome. Only 3 and 6 variants in SEC24D have been reported in patients with Cole‐Carpenter syndrome type 2 and autosomal recessive OI, respectively. We describe a 15‐year‐old Japanese boy with short stature of the short‐trunk type and craniofacial abnormalities including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. These features were consistent with a diagnosis of Cole‐Carpenter syndrome. He had low‐bone mineral density and basilar impression. Whole exome sequencing analysis identified biallelic variants in SEC24D (p.Arg484* and p.Arg313His) in the patient. We will report a patient with compound heterozygous variants of SEC24D causing Cole‐Carpenter syndrome type 2.

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Skull base abnormalities in osteogenesis imperfecta: a cephalometric evaluation of 54 patients and 108 control volunteers

Abstract: Platybasia, basilar impression, and basilar invagination were often coexpressed, but each was also present as an isolated abnormality. These three abnormalities and wormian bones were predominantly found in OI Types III and IV as well as in patients exhibiting dentinal abnormality.

Cited by 68 publications

References 24 publications

Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants

Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants

Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype

Japanese patient with Cole‐carpenter syndrome with compound heterozygous variants of SEC24D

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