ArticleAJNR. American journal of neuroradiology2021
Persistent Trigeminal Artery: A Novel Imaging Finding in CHARGE Syndrome.
Article in AJNR. American journal of neuroradiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 6 citations in OpenAlex.
- The Relationship between the Permanent Trigeminal Artery and Cerebrovascular Disease: A Meta-Analysis.Iranian journal of public health · 2024Review
- Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome.Journal of clinical neurology (Seoul, Korea) · 2023Article
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Authors and funding
4 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
background and purposeColoboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, Ear abnormalities and deafness (CHARGE) syndrome is an autosomal dominant genetic disorder with evolving clinical diagnostic criteria. Recently, a number of additional anomalies have been described in this syndrome, which may aid in early diagnosis, particularly in incomplete phenotypes or atypical cases. The persistent trigeminal artery is an embryonic carotid-vertebral anastomosis, rarely seen in the healthy population, with a reported prevalence of 0.4%. Because we had observed the persistent trigeminal artery in patients with CHARGE syndrome, this study aimed to explore the prevalence of the persistent trigeminal artery in this syndrome. MATERIALS AND
methodsA retrospective study was performed at our tertiary center. MR imaging studies, clinical records, and genetic results were reviewed for patients diagnosed with CHARGE syndrome between 2006 and 2019. The prevalence of the persistent trigeminal artery in patients with CHARGE syndrome was recorded and compared with other established diagnostic criteria.
resultsTwenty-five patients with CHARGE syndrome were included. The persistent trigeminal artery was demonstrated on MR imaging in 14/25 (56%) patients and was seen more frequently than 4 of 9 other established diagnostic criteria in our cohort. When individual major or minor diagnostic criteria were absent, the persistent trigeminal artery was still demonstrated on MR imaging in 52%-67% of these patients with CHARGE syndrome.
conclusionsThe prevalence of the persistent trigeminal artery in CHARGE syndrome of 56% is higher than that of some other established diagnostic criteria and much higher than that in the general population. The persistent trigeminal artery may be a useful addition to the expanding phenotype of CHARGE syndrome, supplementing other diagnostic criteria. Radiologists should be aware of this novel finding demonstrable on MR imaging.
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