期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 128A, 期 3, 页码 294-298出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.10871
关键词
penicillamine embryopathy; cutis laxa; joint contractures; arthrogryposis; corpus callosum agenesis; developmental delay; cortical blindness; Wilson disease
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. (C) 2004 Wiley-Liss, Inc.
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