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

Maria Schøler Nørgaard, Ritu Mogra, Jason Pinner, Karl Oliver Kagan, Mette Warming Jørgensen, Vibike Gjørup, Olav Bjørn Petersen, Puk Sandager, Ida Vogel
Ultrasound in Obstetrics & Gynecology 2019 April 2
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.


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