ArticleAJNR. American journal of neuroradiology2018
Clival Malformations in CHARGE Syndrome.
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 8 papers.
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8 citing papers in PubMed, 15 citations in OpenAlex.
- Coronal Clival Cleft in CHARGE Syndrome: Fetal MRI Series.AJNR. American journal of neuroradiology · 2025Article
- Complete transverse basilar cleft associated with hemifacial microsomia.Anatomy & cell biology · 2024Article
- CHD7 regulates craniofacial cartilage development via controlling HTR2B expression.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Skull Base Anatomy in Patients with Bilateral Choanal Atresia: A Radiographic Study.Journal of neurological surgery. Part B, Skull base · 2022Article
- Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.Endocrine connections · 2022Article
- Persistent Trigeminal Artery: A Novel Imaging Finding in CHARGE Syndrome.AJNR. American journal of neuroradiology · 2021Article
- Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome.AJNR. American journal of neuroradiology · 2019Observational
- Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study.AJNR. American journal of neuroradiology · 2018Article
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Authors and funding
2 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
background and purposeCHARGE syndrome is a multisystemic congenital disorder, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome have been refined with time. However, limited reports describe skull base and craniocervical junction abnormalities. Recently, a coronal clival cleft has been identified in association with CHARGE syndrome. The aim of our study was to assess the prevalence of clival pathology in CHARGE syndrome. MATERIALS AND
methodsIn this retrospective study, the CT/MR imaging data base at a single academic children's hospital was queried for the phrase "CHARGE syndrome" during a 17-year period (2001-2017). Electronic medical records were reviewed to confirm the diagnosis. Images were assessed for skull base anomalies, specifically clival hypoplasia and dysplasia.
resultsThe search yielded 42 examinations (21 CTs and 21 MRIs) from 15 distinct patients (mean age, 4.1 ± 5.6 years; range, 2 days to 19 years). CHARGE syndrome diagnosis was confirmed either by clinical and genetic testing (
conclusionsClival pathology is universal in CHARGE syndrome. Coronal clival clefts are extremely common, representing a useful additional diagnostic finding. Detection of a clival cleft should alert the radiologist to examine the palate, choana, eyes, ears, and olfactory centers for other signs of CHARGE syndrome.
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