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

Shalini S. Nayak; Smrithi Salian; Anju Shukla; Mary Mathew; Katta M. Girisha

doi:10.1111/cga.12188

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

Shalini S. Nayak, Smrithi Salian, Anju Shukla, Mary Mathew, Katta M. Girisha^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

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.

Original language	English
Pages (from-to)	83-85
Number of pages	3
Journal	Congenital Anomalies
Volume	57
Issue number	3
DOIs	https://doi.org/10.1111/cga.12188
Publication status	Published - 01-05-2017

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Embryology
Developmental Biology

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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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AU - Nayak, Shalini S.

AU - Salian, Smrithi

AU - Shukla, Anju

AU - Mathew, Mary

AU - Girisha, Katta M.

PY - 2017/5/1

Y1 - 2017/5/1

N2 - 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.

AB - 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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JO - Congenital Anomalies

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

Abstract

All Science Journal Classification (ASJC) codes

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