ArticleAnnals of clinical and translational neurology2021
L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Article in Annals of clinical and translational neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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Who cites it
11 citing papers in PubMed, 22 citations in OpenAlex.
- Prenatal diagnosis of infratentorial anomalies: ultrasound, fetal MRI, and implications for counseling.Pediatric radiology · 2026Review
- Neonatal neurocritical care considerations for prenatally identified neurological disorders.Pediatric research · 2026Review
- Fetal mri of obstructive hydrocephalus: a review proposing a surgical etiology-based approach.Neuroradiology · 2026Review
- A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncation.The Journal of clinical investigation · 2025Article
- Article
- Prenatal assessment of brain malformations on neuroimaging: an expert panel review.Brain : a journal of neurology · 2024Review
- Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome withMolecular syndromology · 2024Article
- A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus.Molecular genetics & genomic medicine · 2023Article
- X-Linked Hydrocephalus with NewMolecular syndromology · 2023Article
- "Floppy brain" in congenital hydrocephalus.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Diagnostic Approach to Macrocephaly in Children.Frontiers in pediatrics · 2021Review
Corrections and comments
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Authors and funding
27 authors at 11 institutions in 5 countries.
Funding
Abstract
Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic-mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.