Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation

Jefferson Terry, Katherine A Rauen, Malgorzata J M Nowaczyk

Research output: Contribution to journalArticle

1 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)59-63
Number of pages5
JournalPediatric and Developmental Pathology
Volume17
Issue number1
DOIs
StatePublished - 2014
Externally publishedYes

Keywords

  • BRAF
  • Cardiofaciocutaneous syndrome
  • CFC
  • Fetopsy
  • RASopathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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