Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1. (May 2017)

• Record Type: Journal Article
• Authors: Nayak, Shalini S.; Salian, Smrithi; Shukla, Anju; Mathew, Mary; Girisha, Katta M.
• Is Part Of: Congenital anomalies. Volume 57:Number 3(2017)
• Page Start: 83
• Page End: 85
• Publication Date: 2017-05
• Subjects: Brachydactyly -- Fraser syndrome -- Syndactyly; Abnormalities, Human -- Periodicals; 616.043
• DOI: 10.1111/cga.12188
• Languages: English
• ISSNs: 0914-3505

Abstract

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.