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Klin Padiatr 2024; 236(02): 145-147
DOI: 10.1055/a-2235-6201
Short Communication

A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation

Ein milder Fall des Jeune-Syndroms assoziiert mit einer wiederkehrenden Missense-Variante in DYNC2H1: Bestätigung einer Genotyp-Phänotyp-Korrelation
Marc-Alexander Oestreich
1   Division of Neonatology, Department of Paediatrics, Inselspital Universitätsspital Bern, University of Bern, Bern, Switzerland
2   Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland
,
Fabian Keller
1   Division of Neonatology, Department of Paediatrics, Inselspital Universitätsspital Bern, University of Bern, Bern, Switzerland
,
Xenia Bovermann
2   Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland
,
Dominique Braun
3   Department of Human Genetics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland
,
Rike Schiller
4   Department of Diagnostic, Interventional and Paediatric Radiology, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland
,
Luigi Raio
5   Department of Obstetrics and Gynecology, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland
,
Christiane Zweier
3   Department of Human Genetics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland
,
Carmen Casaulta
2   Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland
,
Jakob Usemann
6   Division of Respiratory Medicine, UKBB, Basel, Switzerland
7   Division of Respiratory Medicine, Universitäts-Kinderspital Zürich, Zürich, Switzerland
,
André Kidszun
1   Division of Neonatology, Department of Paediatrics, Inselspital Universitätsspital Bern, University of Bern, Bern, Switzerland
,
Mircea-Horia Popa-Todirenchi
1   Division of Neonatology, Department of Paediatrics, Inselspital Universitätsspital Bern, University of Bern, Bern, Switzerland
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Introduction

Asphyxiating thoracic dystrophy type Jeune is a rare, potentially fatal, autosomal recessive skeletal dysplasia characterized by a small and narrow thorax, lung hypoplasia, limb shortness, and facultative congenital abnormalities (e. g. polydactyly and ocular, hepatic, or renal complications) (de Vries et al., Eur J Pediatr 2010; 169: 77–88). Despite the identification of at least 17 associated genes since its first description (Jeune et al., Arch Fr Pediatr 1955; 12: 886–891), prenatal diagnosis and prognostic counseling remain challenging due to substantial clinical heterogeneity and limited genotype-phenotype correlations (Stembalska et al., Genes 2022; 13). We present a newborn with antenatally confirmed and postnatally relatively mild Jeune syndrome.



Publication History

Article published online:
15 January 2024

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