TY - JOUR AU - Tognato, Eleonora; Perona, Anna; Aronica, Angela; Bertola, Antonella; Cimminelli, Lina; De Vecchi, Simona; Eshraghy, Mohammad Reza; Loperfido, Bruna; Vivenza, Claudia; Manzoni, Paolo TI - Neonatal Marfan Syndrome SN - 0735-1631 SN - 1098-8785 PY - 2019 JO - Am J Perinatol JF - American Journal of Perinatology LA - EN VL - 36 IS - S 02 SP - S74 EP - S76 DA - 2019/06/25 KW - neonatal Marfan syndrome KW - Ghent criteria KW - severe cardiovascular disease KW - neonate AB - 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. PB - Thieme Medical Publishers DO - 10.1055/s-0039-1691770 UR - http://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0039-1691770 ER -