Published in:
01-07-2004
EYA1 Mutation in a Newborn Female Presenting with Cardiofacial Syndrome
Published in: Pediatric Cardiology | Issue 4/2004
Login to get accessAbstract
The combination of an asymmetric crying face and heart defect has been termed cardiofacial syndrome. This “syndrome” is etiologically heterogeneous and a subset of patients have 22q11.2 deletions. We present a female with Cayler’s cardiofacial syndrome phenotype who had a frameshift mutation of the EYA1 gene. We conclude that EYA1 mutation represents a previously undescribed cause of cardiofacial syndrome.