ArticlePediatric radiology2008
C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome.
Article in Pediatric radiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2015Article
- Persistent right aortic arch and associated axial skeletal malformations in cats.Journal of feline medicine and surgery · 2013Article
- Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome.BMC medical genetics · 2009Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChromosome 22q11.2 microdeletion syndrome (22q11DS) is characterized by cleft palate, cardiac anomalies, characteristic facies, high prevalence of skeletal anomalies and learning disability.
objectiveTo evaluate the prevalence of craniovertebral junction anomalies in children with 22q11DS and compare these findings to those in nonsyndromic children with velopharyngeal insufficiency (VPI). MATERIALS AND
methodsSequential CT scans performed for presurgical carotid assessment in 76 children (45 children positive for chromosome 22q11.2 deletion and 31 negative for the deletion) with VPI were retrospectively evaluated for assessment of C1-2 anomalies.
resultsC1-2 vertebral anomalies, specifically midline C1 defects, uptilted or upswept posterior elements of C2 and fusions of C2-3, were nearly universal in our cohort of 22q11DS patients with VPI. They were strikingly absent in the majority of non-22q11DS patients with VPI.
conclusionC1-2 vertebral anomalies, particularly those listed above, are important radiographic markers for 22q11DS.
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