Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement

Bosemani, Thangamadhan; Orman, Güneş; Hergan, Benedikt; Carson, Kathryn A.; Huisman, Thierry A.G.M.; Poretti, Andrea

doi:10.1007/s00381-014-2559-4

Cited by 33 publications

(19 citation statements)

References 19 publications

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“…CNS: In almost all children, some degree of ventriculomegaly most likely due to impaired venous drainage secondary to stenosis of the foramen magnum and jugular foramina . Progressive hydrocephalus requiring neurosurgical treatment only in 10–15% of children.…”

Section: Glossarymentioning

confidence: 99%

“…74 CNS: In almost all children, some degree of ventriculomegaly most likely due to impaired venous drainage secondary to stenosis of the foramen magnum and jugular foramina. 75 Progressive hydrocephalus requiring neurosurgical treatment only in 10-15% of children. Prominent emissary and meningeal veins in the majority of patients most likely due to collateral vessel formation compensating for intracranial venous hypertension and increased CSF pressures.…”

Section: Rubinstein-taybi Syndrome (Omim: 180849)mentioning

confidence: 99%

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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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Section: Glossarymentioning

confidence: 99%

Section: Rubinstein-taybi Syndrome (Omim: 180849)mentioning

confidence: 99%

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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“…Jugular bulb abnormalities in achondroplasia may be related to decreased size of the jugular foramen at the skull base as well as enlargement of emissary veins in the skull, as noted in an age-matched controlled study of magnetic resonance imaging 46 .…”

Section: Resultsmentioning

confidence: 82%

Best Practice Guidelines in Managing the Craniofacial Aspects of Skeletal Dysplasia

Savarirayan

Tunkel

Sterni

et al. 2020

Preprint

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Background Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidence-based clinical decision making. Methods Using the Delphi method, an international, multi-disciplinary group of individuals, with significant experience in the care of patients with skeletal dysplasia, convened to develop multi-disciplinary, best practice guidelines in the management of craniofacial aspects of these patients. Results After a comprehensive literature review, 23 initial statements were generated and critically discussed, with subsequent development of a list of 22 best practice guidelines after a second round voting. Conclusions The guidelines are presented and discussed to provide context and assistance for clinicians in their decision making in this important and challenging component of care for patients with skeletal dysplasia, in order standardize care and improve outcomes.

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“…Furthermore, there are some associated vascular canals and enlarged emissary veins associated with syndromic craniosynostosis that can be misdiagnosed as fracture. 1 In brief, combining 2D and 3D CT images would be very helpful to decrease false-negative and false-positive diagnoses in infants with an abnormal head shape.…”

Section: Added Value Of 3d Ct Images In Pediatric Linear Skull Fractumentioning

confidence: 99%

“…We agree that an abnormal head shape in children with conditions such as craniosynostosis would certainly affect the evaluation of the symmetry of sutures. In our study, we did not specifically evaluate children with craniosynostosis or conditions such as achondroplasia where prominent emissary veins 1 or vascular channels can mimic linear fractures. Our study has shown that the use of 2D+3D CT combined demonstrates increased sensitivity in the diagnosis of linear skull fractures in all children and increased specificity in children younger than 2 years of age, regardless of head shape, age, or underlying syndromal abnormality. )…”

Section: Responsementioning

confidence: 99%

Letter to the Editor: Pediatric sports-related concussions

Griffin

2016

PED

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Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement

Cited by 33 publications

References 19 publications

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Best Practice Guidelines in Managing the Craniofacial Aspects of Skeletal Dysplasia

Letter to the Editor: Pediatric sports-related concussions

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