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

Nayak, Shalini S and Salian, Smrithi and Shukla, Anju and Mathew, Mary and Girisha, KM (2017) Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1. Congenital Anomalies, 57 (3). pp. 83-85. ISSN 0914-3505

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Abstract

We report on a consanguineous family with three pregnancies affected with Fraser syndrome.We note severe brachydactyly is amanifestation 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.

Item Type: Article
Uncontrolled Keywords: Brachydactyly; fraser syndrome; syndactyly.
Subjects: Medicine > KMC Manipal > Pathology
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 02 May 2017 11:02
Last Modified: 02 May 2017 11:02
URI: http://eprints.manipal.edu/id/eprint/148780

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