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Article

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

Congenital anomalies - 1 May 2017

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

Abstract excerpt

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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Source

Identifiers

PMID: 27624506
DOI: 10.1111/cga.12188

Genes

FRAS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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