Neonatal Marfan Syndrome.

Authors :: Tognato E
Perona A
Aronica A
Bertola A
Cimminelli L
De Vecchi S
Eshraghy MR
Loperfido B
Vivenza C
Manzoni P
Source :: American journal of perinatology [Am J Perinatol] 2019 Jul; Vol. 36 (S 02), pp. S74-S76. Date of Electronic Publication: 2019 Jun 25.
Publication Year :: 2019
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.<br />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.<br />Results and Conclusion: Early diagnosis of this rare condition is critical for adequate treatment and specific follow-up, and impacts significantly on prognosis.<br />Competing Interests: None declared.<br /> (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)