Novel Fibrillin 1 Mutation in a Case of Neonatal Marfan Syndrome: The Increasing Importance of Early Recognition

Abstract

Neonatal Marfan syndrome (MFS) is a severe form of classic MFS caused by mutations in a specific region of the fibrillin 1 gene (FBN1). We report a case of an infant with neonatal MFS who presented with flexion contractures in utero and severe skeletal and cardiovascular manifestations at birth. A novel de novo missense mutation in exon 26 of FBN1 was demonstrated. Because of potential new therapies, it is increasingly important to recognize neonatal MFS in utero as well as shortly after birth to initiate the appropriate diagnostic work-up and management.

Molecular and developmental mechanisms of congenital heart valve disease

“…MVP is not traditionally considered a congenital malformation, but is heritable and can be diagnosed at birth (Devereux et al, 1982;Kyndt et al, 2007;Sutherell et al, 2007). Valve malformations occur in the context of a number of genetic syndromes, including Williams, Marfan, Trisomy 21, Alagille, Turner, and Noonan syndromes, that involve multiple organ systems (Pierpont et al, 2007).…”

Health Supervision for Children With Marfan Syndrome

“…Infants with neonatal Marfan syndrome are long with simple/ crumpled ears, aged-appearing face, enlarged corneas, ectopia lentis, chest deformity, large feet, arachnodactyly, and contractures. 74 Respiratory insufficiency is common as a result of an abnormally pliant chest wall and emphysematous changes in the lungs.…”

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

“…Only about 14% of all children with Marfan syndrome become apparent during the neonatal period [Faivre et al, 2009b]. Some authors propose to reserve this terminology to patients diagnosed at birth or within the first 3 months of life, presenting with pronounced atrioventricular valve dysfunction, frequently complicated by fatal congestive heart failure within the first year of life [Morse et al, 1990;Booms et al, 1999;Sutherell et al, 2007]. Pulmonary emphysema, severe valvular regurgitations, and loose skin are often associated [Hennekam, 2005].…”