Published online August 1, 2007
PEDIATRICS Vol. 120 No. 2 August 2007, pp. e436-e441 (doi:10.1542/peds.2006-2997)
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EXPERIENCE & REASON

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

Alan L. Shanske, MDa, Larry Bernstein, MDb and Ronit Herzog, MDb

a Center for Craniofacial Disorders
b Division of Allergy and Immunology, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York

ABSTRACT

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.

Key Words: chondrodysplasia punctata • autoimmune disease • systemic lupus erythematosus

Abbreviations: CDP, chondrodysplasia punctata • RCDP, rhizomelic chondrodysplasia punctata • VLCFA, very-long-chain fatty acid • SLE, systemic lupus erythematosus • DMA, dimethyl acetal • PTS, peroxisomal target signal • NLE, neonatal lupus erythematosus

Accepted Jan 29, 2007.


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