Fetal costello syndrome: A description of the phenotype of HRAS exon 1 mutations

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  • Maria Schøler Nørgaard, Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
  • ,
  • Ritu Mogra, Department of Obstetrics and Gynaecological Ultrasound, RPA Women and Babies, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
  • ,
  • Jason Pinner, Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia.
  • ,
  • Karl Oliver Kagan, Universitäts-Frauenklinik Tübingen, Germany.
  • ,
  • Mette Warming Jørgensen
  • Vibike Gjørup
  • Olav Bjørn Petersen
  • Puk Sandager
  • Ida Vogel

This is a description of similar prenatal ultrasound findings in five cases of fetal Costello syndrome from 3 countries. We suggest that Costello syndrome (CS) may be recognizable prenatally, is more prevalent in utero than previously described, and that cases diagnosed prenatally have a more severe phenotype and a high risk of intrauterine death compared with cases diagnosed postnatally. This article is protected by copyright. All rights reserved.

TidsskriftUltrasound in Obstetrics & Gynecology
StatusE-pub ahead of print - 2 apr. 2019

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This article is protected by copyright. All rights reserved.

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