title: 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.
authors.affiliation: 1  Department of Pathology and Molecular Medicine, McMaster Children's Hospital, 1200 Main Street West, Hamilton, ON, L8N 3Z5, Canada.
authors.forename: Jefferson
authors.initials: J
authors.lastname: Terry
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Rauen
authors.forename: Malgorzata J M
authors.initials: MJ
authors.lastname: Nowaczyk
mesh_terms: D000328:Adult; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000473:pathology*; D019066:Facies; D005183:Failure to Thrive / Q000235:genetics / Q000473:pathology*; D005260:Female; D005333:Fetus / Q000473:pathology*; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D015160:Hydrops Fetalis / Q000209:etiology / Q000473:pathology; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf