@article {Milliken:2020:0736-8046:925,
title = "Chondrodysplasia punctata and neonatal lupus in an infant with positive antiRNP and negative antiRo/SSA and La/SSB antibodies, a case report",
journal = "Pediatric Dermatology",
parent_itemid = "infobike://bsc/pde",
publishercode ="bp",
year = "2020",
volume = "37",
number = "5",
publication date ="2020-09-01T00:00:00",
pages = "925-928",
itemtype = "ARTICLE",
issn = "0736-8046",
eissn = "1525-1470",
url = "https://www.ingentaconnect.com/content/bsc/pde/2020/00000037/00000005/art00039",
doi = "doi:10.1111/pde.14312",
keyword = "chondrodysplasia punctata, maternal autoimmune disease, maternal autoantibodies, Neonatal lupus",
author = "Milliken, Michael and Lee, Jack and Cipriano, Sarah D.",
abstract = "Rhizomelic chondrodysplasia punctata is a rare, often fatal disease that shares many clinical dysmorphologic features with the rare often nonlethal chondrodysplasia punctata due to maternal autoimmune disease. Characteristic findings of both conditions include midface
hypoplasia, stippled epiphyses of the vertebrae and long bones, and growth failure. A growing association with antiribonucleoprotein antibodies is emerging amongst patients with chondrodysplasia punctata due to maternal autoimmune disease and also neonatal lupus that have potential
important screening implications. We present a unique case of chondrodysplasia punctata with neonatal lupus in the setting of positive antiRNP antibodies and negative antiRo/SSA and La/SSB antibodies born to a mother with mixed connective tissue disease and Raynaud's
syndrome.",
}