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.
- 22q deletion
- Cardiofacial syndrome
- Depressor anguli oris
- Mutation analysis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Cardiology and Cardiovascular Medicine