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

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 characteri...

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Veröffentlicht in:Pediatrics (Evanston) 2007-08, Vol.120 (2), p.e436-e441
Hauptverfasser: Shanske, Alan L, Bernstein, Larry, Herzog, Ronit
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container_title Pediatrics (Evanston)
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creator Shanske, Alan L
Bernstein, Larry
Herzog, Ronit
description 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 associated with peroxisomal dysfunction. These cases were found to be secondary to teratogen exposure or maternal conditions. Since 1993, there have been 9 reported cases of neonates with rhizomelic chondrodysplasia punctata who were born to mothers with connective tissue disease. We followed a newborn boy with features suggestive of rhizomelic chondrodysplasia punctata whose biochemical studies failed to demonstrate a defect in either plasmalogen or cholesterol biosynthesis. His mother developed systemic lupus erythematosus 8 months after delivery. This case is compared with the previously reported 9 cases from the literature and is instructive in demonstrating a lesser known effect of maternal autoantibodies on the fetus.
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subjects Adult
Autoimmune diseases
Chondrodysplasia Punctata, Rhizomelic - diagnosis
Chondrodysplasia Punctata, Rhizomelic - genetics
Chondrodysplasia Punctata, Rhizomelic - immunology
Diagnosis, Differential
Female
Genetic disorders
Humans
Infant, Newborn
Lupus Erythematosus, Systemic - complications
Lupus Erythematosus, Systemic - diagnosis
Lupus Erythematosus, Systemic - immunology
Male
Middle Aged
Pediatrics
Pregnancy
Prenatal Exposure Delayed Effects - diagnosis
Prenatal Exposure Delayed Effects - etiology
Prenatal Exposure Delayed Effects - immunology
title Chondrodysplasia Punctata and Maternal Autoimmune Disease: A New Case and Review of the Literature
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