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Chondrodysplasia punctata and neonatal lupus in an infant with positive anti‐RNP and negative anti‐Ro/SSA and –La/SSB antibodies, a case report

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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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Keywords: Neonatal lupus; chondrodysplasia punctata; maternal autoantibodies; maternal autoimmune disease

Document Type: Research Article

Publication date: September 1, 2020

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