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

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 presence of oligohydramnios in the antenatal period often makes prenatal diagnosis clinically challenging.

Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Authors: Shalini S. Nayak, Smrithi Salian, Anju Shukla, Mary Mathew, Katta M. Girisha Tags: Case Report Source Type: research