Wilson disease

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 1

                       


(per page)
PMID (PMCID)
15216551
 MIXED_SAMPLE Infant
Infant with severe penicillamine embryopathy born to a woman with Wilson disease.
Pinter R, Hogge WA, McPherson E.
Am J Med Genet A. 2004;128A(3):294-8.
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.