ArticleAJNR. American journal of neuroradiology2018
Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study.
Article in AJNR. American journal of neuroradiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 11 citations in OpenAlex.
- Morphological Measurement and Anatomical Variations of the Clivus Using Computed Tomography.Journal of neurological surgery. Part B, Skull base · 2022Article
- Persistent Trigeminal Artery: A Novel Imaging Finding in CHARGE Syndrome.AJNR. American journal of neuroradiology · 2021Article
- Rare and de novo coding variants in chromodomain genes in Chiari I malformation.American journal of human genetics · 2021Article
- The role of clivus length and cranial base flexion angle in basilar invagination and Chiari malformation pathophysiology.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome.AJNR. American journal of neuroradiology · 2019Observational
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeWe present the largest case series to date on basiocciput abnormalities in CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and/or deafness). We aimed to show that basiocciput abnormalities are common and may aid in diagnosis. We furthermore explored whether clivus size correlates with the type of chromodomain-helicase-DNA binding protein 7 gene ( MATERIALS AND
methodsWe retrospectively analyzed the clivus of 23 patients with CHARGE syndrome with
resultsEighty-seven percent of the patients with CHARGE syndrome had an abnormal clivus; 61% had a clivus >2.5 SD smaller than that of age-matched controls. An abnormally large Welcher angle was observed in 35%. Basiocciput hypoplasia was found in 70%, and basilar invagination, in 29%. None of the patients had a Chiari I malformation. At the group level, patients with CHARGE syndrome had a smaller clivus and larger Welcher angle than controls. No significant correlation between clivus size and mutation type or clinical criteria was found.
conclusionsMost patients with CHARGE syndrome have an abnormal clivus. This suggests that clivus abnormalities may be used as an additional diagnostic tool. Our results provide evidence that
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