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Chondrodysplasia Punctata, Rhizomelic

Known as: Chondrodysplasia Punctatas, Rhizomelic, Rhizomelic Chondrodysplasia Punctatas, CDPR 
An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have… 
National Institutes of Health

Related topics

Related topics

11 relations
Hereditary Connective Tissue DisorderIn BloodMicrobiologicalRhizomelia

Narrower (3)

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1Rhizomelic chondrodysplasia punctata, type 2Rhizomelic chondrodysplasia punctata, type 3

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation
Abstract Metaphyseal chondrodysplasia represents a complex challenge for the orthopaedic surgeon as it potentially affects all… 
Review
1999
Review
1999
Receptors for PTH and PTHrP: their biological importance and functional properties.
The type 1 receptor (PTH1R) for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) is a G protein-coupled… 
1999
1999
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.
Rhizomelic chondrodysplasia punctata is an autosomal recessive disorder characterized by stippled epiphyses and rhizomelic… 
1996
1996
Chondrodysplasia punctata, humero-metacarpal type: a second case.
We report on a boy with symmetrical rhizomelic shortness of the upper limbs and punctate epiphyseal calcifications noted at birth… 
1994
1994
Progressive pseudorheumatoid chondrodysplasia: a report of nine cases in three families
Nine cases of progressive pseudorheumatoid chondrodysplasia in subjects aged 7–60 years are reported. Six of them were members of… 
1993
1993
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
An infant with the characteristic phenotype of classical rhizomelic chondrodysplasia punctata was found to have an isolated… 
Review
1993
Review
1993
[Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].
A case of chondrodysplasia punctata (CDP) a mild form of Conradi-Huenermann type in a male newborn is presented. CDP is a bone… 
Highly Cited
1990
Highly Cited
1990
Aberrant Subcellular Localization of Peroxisomal 3-Ketoacyl-CoA Thiolase in the Zellweger Syndrome and Rhizomelic Chondrodysplasia Punctata
ABSTRACT: Fibroblasts from patients with the inherited disorder Zellweger syndrome have few or no peroxisomes; multiple… 
1988
1988
Punctate Porokeratotic Keratoderma
To the Editor. — The nosologic designation of numerous fine, acuminate, firm, keratotic palmoplantar papules resembling the… 
1981
1981
Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.
A brother and sister, children of normal parents are described. They had retinitis pigmentosa, causing near-blindness as a result… 
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