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

Shalini S NayakSmrithi SalianAnju ShuklaMary MathewKatta Mohan Girisha
Published in: Congenital anomalies (2018)
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.
Keyphrases
  • case report
  • pregnant women
  • preterm birth
  • early onset
  • drug induced