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Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases
American Journal of Medical Genetics, 11/18/08
Chitayat D et al. - Study reports 8 cases of maternal collagen vascular disease associated with fetal chondrodysplasia punctata (CDP). Authors suggest that maternal autoimmune diseases should be part of the differential diagnosis and investigation in newborns/fetuses with CDP. Thus, in addition to cardiac evaluation, fetuses/newborn to mothers with autoimmune diseases should have fetal ultrasound/newborn examination and if indicated, X-rays, looking for absent/hypoplastic nasal bone, brachydactyly, shortened long bones and epiphyseal stippling.
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Today in Autoimmune/Heritable...keeping you current
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