Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.
Shalini S NayakSmrithi SalianAnju ShuklaMary MathewKatta Mohan GirishaPublished 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.