Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1
Shalini S Nayak1, Smrithi Salian1, Anju Shukla1
1Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
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.
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