Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

4 Dec 2008

Abstract excerpt

Rhombencephalosynapsis is an uncommon cerebellar malformation defined by vermian agenesis with fusion of the hemispheres and of the dentate nuclei. Embryologic and genetic mechanisms are still unknown, and to date, no animal models are available. Ultrasound diagnosis is generally suspected after 22 weeks of gestation, and usually the abnormality is suggested by ventriculomegaly. Morphological analysis of 40...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fetal and Pediatric Neurological Disorders
Share to Neonatal and fetal brain pathology
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 19057916
DOI: 10.1007/s00401-008-0469-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal casesPMID 19057916Read ↗

Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.Semantic proximity Read ↗

Cerebellar hypoplasia: Differential diagnosis and diagnostic approachSemantic proximity Read ↗

Disorders of prosencephalic developmentSemantic proximity Read ↗

Mesencephalosynapsis and aqueductal stenosisSemantic proximity Read ↗

Comprehensive Structural MRI Phenotyping in Oligophrenin 1-Related Disorder Reveals Characteristic Brain Malformations.Semantic proximity Read ↗

Clinical features and revised diagnostic criteria in Joubert syndrome.Semantic proximity Read ↗

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.Semantic proximity Read ↗

Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.Semantic proximity Read ↗

Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and müllerian regression: further delineation of a new syndrome?Semantic proximity Read ↗

Pathology and Genetics: Developmental NeuropathologySemantic proximity Read ↗

Integrative classification of morphology and molecular genetics in central nervous system malformationsSemantic proximity Read ↗

Prenatal diagnosis of pontocerebellar hypoplasia associated with rare syndromes: expanding the genetic and phenotypic spectrum.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.