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  • Title: Chondrodysplasia punctata and neonatal lupus in an infant with positive anti-RNP and negative anti-Ro/SSA and -La/SSB antibodies, a case report.
    Author: Milliken M, Lee J, Cipriano SD.
    Journal: Pediatr Dermatol; 2020 Sep; 37(5):925-928. PubMed ID: 32748967.
    Abstract:
    Rhizomelic chondrodysplasia punctata is a rare, often fatal disease that shares many clinical dysmorphologic features with the rare often non-lethal chondrodysplasia punctata due to maternal autoimmune disease. Characteristic findings of both conditions include mid-face hypoplasia, stippled epiphyses of the vertebrae and long bones, and growth failure. A growing association with anti-ribonucleoprotein 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 anti-RNP antibodies and negative anti-Ro/SSA and -La/SSB antibodies born to a mother with mixed connective tissue disease and Raynaud's syndrome.
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