title: Infant with severe penicillamine embryopathy born to a woman with Wilson disease.
abstract: 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 of the corpus callosum, born to a woman taking D-penicillamine (DP) for Wilson disease (WD) throughout her pregnancy. His postnatal course was remarkable for chronic lung disease, profound developmental delays, and probable cortical blindness, as well as resolution of his cutis laxa. Embryopathy is a rare complication in babies born to pregnant women treated with DP, and there have been only seven previous reports of birth defects in exposed infants (three of which had favorable postnatal outcomes). The etiology of the severe outcome in this boy is unclear, but prenatal measurement of maternal copper and zinc levels may be indicated for management.
authors.affiliation: Department of Genetics, Magee-Women's Hospital, Pittsburgh, Pennsylvania, USA. rpinter@mail.magee.edu
authors.forename: R
authors.initials: R
authors.lastname: Pinter
authors.forename: W A
authors.initials: WA
authors.lastname: Hogge
authors.forename: E
authors.initials: E
authors.lastname: McPherson
mesh_terms: D000014:Abnormalities, Drug-Induced / Q000175:diagnosis*; D061085:Agenesis of Corpus Callosum; D003483:Cutis Laxa / Q000175:diagnosis; D005260:Female; D005315:Fetal Diseases / Q000139:chemically induced* / Q000175:diagnosis; D005333:Fetus / Q000002:abnormalities; D006527:Hepatolenticular Degeneration / Q000188:drug therapy*; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000175:diagnosis; D008171:Lung Diseases / Q000175:diagnosis; D008297:Male; D008844:Micrognathism / Q000175:diagnosis; D009421:Nervous System Malformations / Q000175:diagnosis; D010396:Penicillamine / Q000009:adverse effects* / Q000627:therapeutic use; D011247:Pregnancy; D013577:Syndrome
chemical_list: D010396:Penicillamine