Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.

Abstract

Cardiofaciocutaneous (CFC) syndrome is a RASopathy phenotypically characterized by facial, cardiac, and ectodermal abnormalities. The extent to which this phenotype is expressed in the affected fetus is unclear, and a better understanding of the fetal autopsy findings in CFC syndrome could facilitate diagnosis and understanding of the developmental effects of dysregulated BRAF activity. Here we describe the fetal autopsy findings in a case of CFC syndrome in a 17-week fetus with a novel BRAF mutation that demonstrates potential similarities and differences with the postnatal presentation of CFC syndrome.

DOI: 10.2350/13-08-1365-CR.1

Cite this paper

@article{Terry2014FetalAF, title={Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.}, author={Jefferson Terry and Katherine A. Rauen and Małgorzata J M Nowaczyk}, journal={Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society}, year={2014}, volume={17 1}, pages={59-63} }