Document Detail

Thyroid gland and carotid artery anomalies in 22q11.2 deletion syndromes.
MedLine Citation:
PMID:  19507237     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES/HYPOTHESIS: Chromosome 22q11.2 deletion syndromes (22q11DS), such as velocardiofacial syndrome and DiGeorge syndrome demonstrate developmental anomalies affecting the branchial arch structures. Mouse models have shown abnormalities of both the thyroid gland and the common carotid arteries and have suggested a developmental link between the two structures. Here we examine radiological abnormalities of the carotid artery bifurcation and thyroid gland. STUDY DESIGN: Retrospective case control study. METHODS: We reviewed multiplanar contrast-enhanced computed tomography scans with 3-D reformats of 66 children falling into three groups: 1) children with velopharyngeal insufficiency testing positive for 22q11DS (n = 28), 2) children with velopharyngeal insufficiency testing negative for 22q11DS (n = 10), and 3) age and gender matched controls (n = 28). The common carotid bifurcations were measured according to cervical spinal (C-spine) level. The thyroid gland morphology was also assessed. RESULTS: The 22q11DS group demonstrated lower overall common carotid bifurcations. The median C-spine level of bifurcation was significantly different in the 22q11DS group compared to controls on the right (5 vs. 3.; P < .01) and left (6.5 vs. 3.25; P < .001). These patients demonstrated asymmetry when comparing the bifurcations between sides. Fourteen of 28 patients (50%) with 22q11 deletions demonstrated at least one of four different thyroid anomalies. Anomalies included absence of a lobe, absence of the isthmus, retrocarotid, or retroesophageal extension. The 22q11DS group had significantly higher proportions of thyroid abnormalities compared to the control groups (P < .01). CONCLUSIONS: Patients with 22q11DS demonstrate statistically significantly lower carotid artery bifurcations and a higher proportion of radiological thyroid abnormalities.
John R de Almeida; Adrian L James; Blake C Papsin; Rosanna Weksburg; Howard Clark; Susan Blaser
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  The Laryngoscope     Volume:  119     ISSN:  1531-4995     ISO Abbreviation:  Laryngoscope     Publication Date:  2009 Aug 
Date Detail:
Created Date:  2009-07-29     Completed Date:  2009-08-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8607378     Medline TA:  Laryngoscope     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1495-500     Citation Subset:  IM    
Department of Otolaryngology, the Hospital for Sick Children, Toronto, Ontario, Canada.
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MeSH Terms
Abnormalities, Multiple / epidemiology,  genetics*,  radiography
Carotid Artery, Common / abnormalities*,  radiography
Case-Control Studies
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 22*
DiGeorge Syndrome / epidemiology,  genetics*,  radiography
Imaging, Three-Dimensional*
Retrospective Studies
Risk Assessment
Statistics, Nonparametric
Thyroid Gland / abnormalities*,  radiography
Tomography, X-Ray Computed
Velopharyngeal Insufficiency / diagnosis,  etiology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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