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Chondrodysplasia Punctata and Maternal Autoimmune Disease: A New Case and Review of the Literature

1 Aug 2007

Abstract excerpt

Classic rhizomelic chondrodysplasia punctata is a rare, autosomal, recessively inherited disorder that is characterized by proximal shortening of the limbs, punctuate calcifications of the epiphyses, cataracts, developmental delay, and early lethality. A distinctive biochemical profile is characteristic for each of the several defects of peroxisomal metabolism. Recently, cases have been described that were not...

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PMID: 17671048
DOI: 10.1542/peds.2006-2997

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