ArticleCase reports in medicine2014
A case of rhizomelic chondrodysplasia punctata in newborn.
Article in Case reports in medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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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.
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Who cites it
4 citing papers in PubMed, 11 citations in OpenAlex.
- Metabolomic Profiling Reveals Brain Lipid Alterations inBiomolecules · 2025Article
- Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.Journal of ultrasound · 2023Article
- Peroxisome biogenesis disorders.Translational science of rare diseases · 2016Article
- Peroxisomes in brain development and function.Biochimica et biophysica acta · 2016Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The main features of the disease are shortening of the proximal long bones, punctate calcifications located in the epiphyses of long bones and in soft tissues around joints and vertebral column, vertebral clefting, dysmorphic face, and severe growth retardation, whereas cervical spinal stenosis may also rarely be present. Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions. We report the newborn diagnosed as CDP with cervical stenosis. Our aim is to discuss current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases associated with CDP.
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Registered trials
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