Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.

doi:10.1002/ajmg.a.20202

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Article

Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.

American journal of medical genetics. Part A - 1 Jul 2003

Wessels Marja W, Den Hollander Nicolette J, De Krijger Ronald R, Nikkels Peter G J, Brandenburg Helen, Hennekam Raoul, Willems Patrick J

Abstract excerpt

Chondrodysplasia punctata (CDP) is a heterogeneous condition mainly characterized by premature and ectopic calcification of cartilage. Many genetic and nongenetic causes have been described leading to a preliminar etiological classification into defects of peroxisomal metabolism, defects in cholesterol metabolism, and vitamin K (vit K) metabolism. However, numerous cases of CDP still remain unclassified. The...

Topics

Abnormalities, Multiple
Cartilage
Chondrodysplasia Punctata
Female
Fetal Death
Fetus
Gestational Age
Humans
Lupus Erythematosus, Systemic
Phenotype
Pregnancy
Prenatal Diagnosis
Radiography
Ultrasonography, Prenatal

Source

Open in PubMed

Identifiers

PMID: 12794700
DOI: 10.1002/ajmg.a.20202

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