Neonatal Marfan Syndrome

Eleonora Tognato; Anna Perona; Angela Aronica; Antonella Bertola; Lina Cimminelli; Simona De Vecchi; Mohammad Reza Eshraghy; Bruna Loperfido; Claudia Vivenza; Paolo Manzoni

doi:10.1055/s-0039-1691770

American Journal of Perinatology, Inhaltsverzeichnis

Am J Perinatol 2019; 36(S 02): S74-S76
DOI: 10.1055/s-0039-1691770

Original Article

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Neonatal Marfan Syndrome

Eleonora Tognato

¹Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy

,

Anna Perona

¹Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy

,

Angela Aronica

¹Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy

,

Antonella Bertola

¹Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy

,

Lina Cimminelli

¹Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy

,

Simona De Vecchi

²Division of Cardiology, Department of Medicine and Urgency, Degli Infermi Hospital, Biella, Italy

,

Mohammad Reza Eshraghy

¹Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy

,

Bruna Loperfido

¹Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy

,

Claudia Vivenza

¹Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy

,

Paolo Manzoni

¹Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy

› Institutsangaben

Abstract

Objective The Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1) with skeletal, cardiac, and ocular involvement.

Study Design We report on a full-term male neonate, who showed at birth characteristics and dysmorphisms suggestive of nMFS, combined with the detection of severe cardiovascular disease. A multidisciplinary team made up of neonatologists and pediatricians, cardiologists, geneticists, ophtalmologists, physiatrists and physioterapists was formed to manage this patient.

Results and Conclusion Early diagnosis of this rare condition is critical for adequate treatment and specific follow-up, and impacts significantly on prognosis.

Keywords

neonatal Marfan syndrome - Ghent criteria - severe cardiovascular disease - neonate

Volltext

Referenzen

References
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