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
1  Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy
,
Anna Perona
1  Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy
,
Angela Aronica
1  Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy
,
Antonella Bertola
1  Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy
,
Lina Cimminelli
1  Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy
,
Simona De Vecchi
2  Division of Cardiology, Department of Medicine and Urgency, Degli Infermi Hospital, Biella, Italy
,
Mohammad Reza Eshraghy
1  Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy
,
Bruna Loperfido
1  Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy
,
Claudia Vivenza
1  Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy
,
Paolo Manzoni
1  Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy
› Author Affiliations
Funding None.
Further Information

Publication History

Publication Date:
25 June 2019 (online)

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.