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Ultraschall Med 2018; 39(06): 600-601
DOI: 10.1055/a-0720-8983
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© Georg Thieme Verlag KG Stuttgart · New York

A Diagnostic Challenge: Prenatal Ultrasound Findings in Severe Epidermolysis Bullosa

Eine diagnostische Herausforderung: schwere Verlaufsform der Epidermolysis Bullosa im pränatalen Ultraschall
Julie De Geyter
1   Medical Genetics, Institute of Medical Genetics and Pathology, University-Hospital and University of Basel, Basel, Switzerland
2   University of Basel, Basel, Switzerland
,
Isabel Filges
1   Medical Genetics, Institute of Medical Genetics and Pathology, University-Hospital and University of Basel, Basel, Switzerland
2   University of Basel, Basel, Switzerland
3   Department of Clinical Research, University-Hospital Basel, Basel, Switzerland
,
Sevgi Tercanli
4   Ultraschallpraxis Freie Strasse, Basel, Switzerland
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Publikationsdatum:
14. Dezember 2018 (online)

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Introduction

Epidermiolysis bullosa is a rare condition with clinical and genetic heterogeneity. This report describes the prenatal clinical manifestations in a case with a severe form of junctional epidermiolysis bullosa with pyloric stenosis. We discuss the diagnostic challenge but also the ultrasound signs emerging to be reminiscent of this condition.

 

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