Foramen Magnum Size and Involvement of Its Intraoccipital Synchondroses in Crouzon Syndrome

Rijken, Bianca Francisca Maria; Lequin, Maarten H.; Rooi, Johan J. de; Veelen, Marie-Lise C. van; Mathijssen, Irene M J

doi:10.1097/prs.0b013e3182a8077e

Cited by 27 publications

(28 citation statements)

References 33 publications

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“…This study showed that the FM surface area is smaller in patients with different types of syndromic or complex craniosynostosis compared with control subjects, which is in line with studies reporting on patients with CrouzonePfeiffer syndrome (Coll et al, 2012;Rijken et al, 2013) and Muenke syndrome (Di Rocco et al, 2014). Moreover, we found that this difference is already present at birth and increases over time.…”

Section: Discussionsupporting

confidence: 93%

“…While FGFR2 is highly expressed in both the osteogenic and chondrogenic cell lineage, FGFR3 is especially expressed in the proliferating chondrocytes. Therefore, these genes play a major role in skull base development and may induce premature fusion of Rijken et al, 2013;Tahiri et al, 2013). Although less is known about the influence of the TWIST1-gene on fusion of the skull base synchondroses in SaethreeChotzen patients, TWIST1 is important in morphogenesis of the cephalic neural tube (Soo et al, 2002) and promotes intramembranous ossification in the skull (Hermann et al, 2012) in mouse models.…”

Section: Discussionmentioning

confidence: 98%

“…All measurements were performed twice and the mean value was used for analysis. The intra-class correlation coefficient for calculating the withinrater reliability of the measurements was 0.99 (Rijken et al, 2013).…”

Section: Foramen Magnummentioning

confidence: 99%

“…Scan protocol parameters were set according to the required image quality. The radiation dose used was adapted to the patient size (CareDose, Siemens Healthcare) (Rijken et al, 2013). Craniosynostosis patients received at least one CT scan, while control subjects only had one CT scan, which resulted in an inclusion of 175 CT scans for the craniosynostosis patients and 53 control CT scans.…”

Section: Imaging Datamentioning

confidence: 99%

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The formation of the foramen magnum and its role in developing ventriculomegaly and Chiari I malformation in children with craniosynostosis syndromes

Rijken¹,

Lequin²,

Veelen³

et al. 2015

Journal of Cranio-Maxillofacial Surgery

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 98%

Section: Foramen Magnummentioning

confidence: 99%

Section: Imaging Datamentioning

confidence: 99%

See 2 more Smart Citations

The formation of the foramen magnum and its role in developing ventriculomegaly and Chiari I malformation in children with craniosynostosis syndromes

Rijken¹,

Lequin²,

Veelen³

et al. 2015

Journal of Cranio-Maxillofacial Surgery

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“…CNS: Abnormalities are common and include venous anomalies due to diversion of venous outflow through enlarged emissary veins, ventriculomegaly, tonsillar herniation due to the small skull base, and callosal dysgenesis (Fig ) …”

Section: Glossarymentioning

confidence: 99%

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

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