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

Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations?

AJNR. American journal of neuroradiology - 1 Feb 2020

Pascoe H M, Yang J Y-M, Chen J, Fink A M, Kumbla S

Abstract excerpt

Achondroplasia is the result of a mutation in the fibroblast growth factor receptor 3 gene (FGFR3). Appearances suggestive of macrocerebellum have not been described in this patient group. We retrospectively reviewed MR imaging studies of the brain in 23 children with achondroplasia. A constellation of imaging findings that are recognized in macrocerebellum was observed, including cerebellar hemisphere...

Read the complete abstract on PubMed

Topics

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

Share to Achondroplasia
Share to Cerebellum
Share to Child

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

Share to Magnetic Resonance Imaging

Share to Mutation

Share to Organ Size

Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Open in PubMed Open full text

Identifiers

PMID: 31857328
DOI: 10.3174/ajnr.A6369
PMCID: PMC7015212

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations?PMID 31857328Read ↗

Neuroimaging Findings in Moebius SequenceSemantic proximity Read ↗

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.Semantic proximity Read ↗

Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions.Semantic proximity Read ↗

Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?Semantic proximity Read ↗

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.Semantic proximity Read ↗

Achondroplasia and enchondromatosis: report of three boys.Semantic proximity Read ↗

FGFR3 mutations and medial temporal lobe dysgenesis.Semantic proximity Read ↗

A unique case of progressive hemifacial microsomia or Parry-Romberg syndrome associated with limb and brain anomalies with normal neurological findings: A review of the literature.Semantic proximity Read ↗

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.Semantic proximity Read ↗

New Magnetic Resonance Imaging (MRI) findings in a patient with hypochondroplasia caused by the FGFR3 N540K variant.Semantic proximity Read ↗

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.Semantic proximity Read ↗

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