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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics*
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Consanguinity
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Endocardial Fibroelastosis / genetics*
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Fingers / abnormalities
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Humans
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Male
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Radius / abnormalities
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Syndrome
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Toes / abnormalities
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Ulna / abnormalities*