Ulnar agenesis and endocardial fibroelastosis.
作者信息
Marles S L, Chudley A E
机构信息
Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
出版信息
Am J Med Genet. 1990 Oct;37(2):258-60. doi: 10.1002/ajmg.1320370219.
PMID:2248295
Abstract
We report on an infant with bilateral ulnar agenesis, radial hypoplasia, oligodactyly, hydrops fetalis, and endocardial fibroelastosis (EFE). The presence of the 2 major malformations and parental consanguinity suggests the possibility of a new autosomal recessive MCA syndrome.
摘要
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