Premature Infant with Chondrodysplasia Punctata Secondary to Maternal Autoimmune Disease

Abstract

Chondrodysplasia punctata (CDP) is a rare skeletal abnormality characterized by punctate calcifications or stippling of cartilage. While CDP has various causes, it is an uncommon manifestation of neonatal lupus erythematosus, typically resulting from the transplacental passage of maternal autoantibodies, such as anti-Ro/Sjögren’s syndrome A, anti-La/Sjögren’s syndrome B, and, occasionally, ribonucleoprotein antibodies. We present a rare case of CDP secondary to maternal autoimmune disease in a preterm male infant born at 30 weeks’ gestation to a mother with systemic lupus erythematosus. Although the infant’s physical examination was unremarkable at birth, X-rays performed on day 1 for feeding intolerance revealed stippling of the femoral epiphyses and inguinal regions. A complete skeletal survey identified additional calcifications in the lumbosacral spine, bilateral proximal femurs, and ankles. Genetic testing for CDP-related mutations was negative, and after ruling out other potential etiologies, the infant was diagnosed with CDP secondary to maternal autoimmune disease. This case emphasizes the importance of recognizing CDP as a possible complication in infants of mothers with autoimmune disorders and adds to the limited literature on this rare condition.