Ulnar Agenesis And Endocardial Fibroelastosis

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2019-09-22
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In the son of healthy, consanguineous Filipino parents, Marles and Chudley (1990) described congenital absence of the ulnars with oligodactyly and endocardial fibroelastosis. The baby showed hydrops fetalis and died soon after birth. Because of the presence of 2 major malformations and the parental consanguinity, Marles and Chudley (1990) suggested that this may represent a 'new' autosomal recessive malformation syndrome.