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

Maria Schøler Nørgaard, Ritu Mogra, Jason R. Pinner, Karl Oliver Kagan, Mette Warming Jørgensen, Vibike Gjørup, Olav Bjørn Petersen, Kirsten Puk Sandager, Ida Vogel

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2 Citations (Scopus)

Abstract

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.
Original languageEnglish
JournalUltrasound in Obstetrics and Gynecology
Volume55
Issue number2
Pages (from-to)274-275
ISSN0960-7692
DOIs
Publication statusPublished - 2 Apr 2019
Externally publishedYes

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