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 Citation (Scopus)

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

Fingerprint

Autopsy
Mutation
Fetus
Phenotype
Cardiofaciocutaneous syndrome

Keywords

  • BRAF
  • Cardiofaciocutaneous syndrome
  • CFC
  • Fetopsy
  • RASopathy

ASJC Scopus subject areas

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

Cite this

Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation. / Terry, Jefferson; Rauen, Katherine A; Nowaczyk, Malgorzata J M.

In: Pediatric and Developmental Pathology, Vol. 17, No. 1, 2014, p. 59-63.

Research output: Contribution to journalArticle

@article{ab4e22d96a9142e5bf7b7ea1b8bc960e,
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.",
keywords = "BRAF, Cardiofaciocutaneous syndrome, CFC, Fetopsy, RASopathy",
author = "Jefferson Terry and Rauen, {Katherine A} and Nowaczyk, {Malgorzata J M}",
year = "2014",
doi = "10.2350/13-08-1365-CR.1",
language = "English (US)",
volume = "17",
pages = "59--63",
journal = "Pediatric and Developmental Pathology",
issn = "1093-5266",
publisher = "Society for Pediatric Pathology",
number = "1",

}

TY - JOUR

T1 - Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation

AU - Terry, Jefferson

AU - Rauen, Katherine A

AU - Nowaczyk, Malgorzata J M

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - BRAF

KW - Cardiofaciocutaneous syndrome

KW - CFC

KW - Fetopsy

KW - RASopathy

UR - http://www.scopus.com/inward/record.url?scp=84895420904&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84895420904&partnerID=8YFLogxK

U2 - 10.2350/13-08-1365-CR.1

DO - 10.2350/13-08-1365-CR.1

M3 - Article

C2 - 24303953

AN - SCOPUS:84895420904

VL - 17

SP - 59

EP - 63

JO - Pediatric and Developmental Pathology

JF - Pediatric and Developmental Pathology

SN - 1093-5266

IS - 1

ER -