Infant with severe penicillamine embryopathy born to a woman with Wilson disease.

摘要: We report a chromosomally normal infant boy with congenital diffuse cutis laxa, severe micrognathia, contractures of all limbs, and central nervous system abnormalities including agenesis the corpus callosum, born to woman taking D-penicillamine (DP) for Wilson disease (WD) throughout her pregnancy. His postnatal course was remarkable chronic lung disease, profound developmental delays, probable cortical blindness, as well resolution his laxa. Embryopathy is rare complication in babies pregnant women treated DP, there have been only seven previous reports birth defects exposed infants (three which had favorable outcomes). The etiology outcome this unclear, but prenatal measurement maternal copper zinc levels may be indicated management.