Ulnar agenesis and endocardial fibroelastosis.
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.
Marles
S L
SL
Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
Chudley
A E
AE
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D004695:Endocardial Fibroelastosis / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008297:Male; D011884:Radius / Q000002:abnormalities; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014457:Ulna / Q000002:abnormalities*