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

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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.

Original languageEnglish
Pages (from-to)83-85
Number of pages3
JournalCongenital Anomalies
Volume57
Issue number3
DOIs
Publication statusPublished - 01-05-2017

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Developmental Biology

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