Ultraschall Med 2020; 41(02): 112-114
DOI: 10.1055/a-1104-3625
Title Page

Dual independent genetic etiologies in a lethal complex malformation phenotype

Zwei unabhängige genetische Ätiologien in einem letalen komplexen Fehlbildungsphänotyp
Isabel Filges
1   Medical Genetics, Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Switzerland
,
Agnes Genewein
2   Neonatology, University Children’s Hospital Basel and University of Basel, Switzerland
,
Peter Weber
3   Pediatric Neurology and Developmental Medicine, University Children’s Hospital Basel and University of Basel, Switzerland
,
Stephanie Meier
1   Medical Genetics, Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Switzerland
,
Nikolaus Deigendesch
4   Pathology, Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Switzerland
,
Elisabeth Bruder
4   Pathology, Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Switzerland
,
Friederike Prüfer
5   Pediatric Radiology, University Children’s Hospital Basel and University of Basel, Switzerland
,
Sevgi Tercanli
6   Center for Prenatal Ultrasound, Freie Strasse, Basel and University of Basel, Switzerland
› Author Affiliations

Introduction

The etiologic diagnosis of fetal anomaly syndromes remains difficult despite significant advances in prenatal ultrasound, fetal MRI and molecular genetic technologies. We present the challenges of a late prenatal presentation and adverse outcome in a child with multiple malformations, for which joint multidisciplinary efforts have led to a final dual diagnosis of autosomal recessive Boissel syndrome and geleophysic dysplasia.



Publication History

Article published online:
07 April 2020

© Georg Thieme Verlag KG
Stuttgart · New York

 
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