ArticleNeuroradiology2016
Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction.
Article in Neuroradiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 31 citations in OpenAlex.
- Prenatal diagnosis of infratentorial anomalies: ultrasound, fetal MRI, and implications for counseling.Pediatric radiology · 2026Review
- Delayed Presentation of Diencephalic-Mesencephalic Junction Dysplasia With Compulsive Truncal Movements and Blepharospasm: A Case Report From India.Journal of movement disorders · 2026Article
- Fetal mri of obstructive hydrocephalus: a review proposing a surgical etiology-based approach.Neuroradiology · 2026Review
- Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome withMolecular syndromology · 2024Article
- Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.Cerebellum (London, England) · 2023Article
- L1CAM variants cause two distinct imaging phenotypes on fetal MRI.Annals of clinical and translational neurology · 2021Article
- Diagnostic Approach to Cerebellar Hypoplasia.Cerebellum (London, England) · 2021Review
- Magnetic resonance imaging of the brainstem in children, part 1: imaging techniques, embryology, anatomy and review of congenital conditions.Pediatric radiology · 2021Review
- Imaging phenotype correlation with molecular and molecular pathway defects in malformations of cortical development.Pediatric radiology · 2020Review
- Type B diencephalic-mesencephalic junction dysplasia, a congenital brainstem malformation that may be silent until adulthood: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Thalamic Massa Intermedia in Children with and without Midline Brain Malformations.AJNR. American journal of neuroradiology · 2020Article
- Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.Brain : a journal of neurology · 2019Article
- Interhypothalamic adhesions in endoscopic third ventriculostomy.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Article
- The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.European radiology · 2019Article
- MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly.AJNR. American journal of neuroradiology · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionWe aimed to describe the clinico-radiological findings of patients with disorders of diencephalic-mesencephalic junction (DMJ) formation and midbrain anteroposterior patterning.
methodsWe reviewed the DMJ anatomy of 445 patients with brain malformations. Associated supra/infratentorial abnormalities and clinical findings were noted. Craniocaudal and anteroposterior diameters of midbrain, pons, medulla, vermis, and transverse cerebellar diameter were compared with age-matched controls. Post hoc tests were corrected according to Bonferroni (p(B)).
resultsTwo patterns of DMJ anomaly were identified in 12 patients (7 females, mean age 41 months). Type A was characterized by hypothalamic-mesencephalic fusion on axial plane, with possible midbrain ventral cleft (7 patients). Anteroposterior (p(B) = .006) and craniocaudal (p(B) = .027) diameters of the pons, craniocaudal diameter of the vermis (p(B) = .015), and transverse cerebellar diameter (p(B) = .011) were smaller than the controls. Corticospinal tract, basal ganglia, and commissural anomalies were also associated. Clinical findings included spastic-dystonic tetraparesis, hypothalamic dysfunction, epilepsy, and severe developmental delay. Type B was characterized by incomplete thalamic-mesencephalic cleavage on sagittal plane, with parenchymal bands connecting the interthalamic adhesion with the midbrain (five patients). Anteroposterior diameters of midbrain (p(B) = .002), pons (p(B) = .0004), and medulla (p(B) = .002) as well as the vermian anteroposterior (p(B) = .040) and craniocaudal diameters (p(B) = .014) were smaller than the controls. These patients were less neurologically impaired, most presenting mild developmental delay.
conclusionsThe spectrum of DMJ patterning defects is wide and may be associated with several brain malformations. Infratentorial brain structures should be carefully evaluated to better define the type of associated midbrain-hindbrain anomalies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.