Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1

Congenit Anom (Kyoto). 2017 May;57(3):83-85. doi: 10.1111/cga.12188.

Abstract

We report on a consanguineous family with three pregnancies affected with Fraser syndrome. We note severe brachydactyly is a manifestation of Fraser syndrome and found a novel homozygous splice site variation c.3293-2A>T in FRAS1. We would like to highlight variable manifestations of Fraser syndrome and the presence of oligohydramnios in the antenatal period often makes prenatal diagnosis clinically challenging.

Keywords: Brachydactyly; Fraser syndrome; Syndactyly.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Alleles
  • Autopsy
  • Chromosome Mapping
  • Consanguinity
  • Extracellular Matrix Proteins / genetics*
  • Fetus / abnormalities*
  • Fraser Syndrome / diagnosis*
  • Fraser Syndrome / genetics*
  • Genotype
  • Humans
  • Mutation*
  • Pedigree
  • Phenotype*
  • Ultrasonography, Prenatal

Substances

  • Extracellular Matrix Proteins
  • FRAS1 protein, human