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

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.

Neurology - 28 Mar 2006

Bams-Mengerink A M, Majoie C B L M, Duran M, Wanders R J A, Van Hove J, Scheurer C D, Barth P G, Poll-The B T

Abstract excerpt

BACKGROUND: The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, cataracts, skeletal dysplasia causing disproportionate somatic growth failure, microcephaly, and severe psychomotor defects. Biochemical abnormalities include impaired plasmalogen biosynthesis in all forms of RCDP and accumulation of phytanic acid in RCDP type 1. A subset of patients has a milder...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Cervical Vertebrae
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Cohort Studies

Share to Infant

Share to Magnetic Resonance Imaging

Share to Spinal Cord

Source

Identifiers

PMID: 16567694
DOI: 10.1212/01.wnl.0000205594.34647.d0

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.PMID 16567694Read ↗

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.Semantic proximity Read ↗

Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.Semantic proximity Read ↗

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctataSemantic proximity Read ↗

Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function.Semantic proximity Read ↗

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.Semantic proximity Read ↗

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.Semantic proximity Read ↗

Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren‐Larsson syndromeSemantic proximity Read ↗

A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata.Semantic proximity Read ↗

Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.Semantic proximity Read ↗

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.Semantic proximity Read ↗

Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.Semantic proximity Read ↗

Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation.Semantic proximity Read ↗

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