Cardiac Studies of Infant Twins With Marfan's Syndrome

Novel exon skipping mutation in the fibrillin‐1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome

“…The primary cause of death for patients with nMFS is congestive heart failure associated with mitral and tricuspid regurgitation, whereas death in classical Marfan patients is most often due to aortic dissection or rupture following progressive aortic root dilatation [9]. Patients with nMFS often die within the first few months of life and almost always within 24 months, although survival of children with stigmata typical of genuine nMFS into the third year of life has been reported [10].…”

Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype

“…A review of the literature concerning such anomalies occurring in neonates revealed 12 cases of Marfan syndrome (MS) (Neiman et al 1968;Hohn and Webb 1971;Labadidi and Monzon 1981;Jalaguier et al 1985;Buchanan and Wyatt 1985;Day and Burke 1986;Gross et al 1989;Mathieu et al 1989), 3 cases of congenital contractural arachnodactyly (CCA) (Currarino and Friedman 1986;Philip et al 1988), and 2 cases reported as MS with CCA (Gruber et al 1978;Tamminga et al 1985). Clinical findings included skeletal (17 of 17 cases) and cardiac (15 of 15 informative cases) anomalies, as are found in MS (Pyeritz and McKusik 1979), but also articular contractures (10 of 16 cases) and malformed ears (5/6), as in CCA (Ramos-Arroyo et al 1985).…”

Marfan syndrome associated aortic disease in neonates and children: a clinical–morphologic review

“…Neonatal diagnosis of MFS was first reported in the late 1960's and early 1970's in infants with phenotypic appearance of MFS who demonstrated the cardiovascular features of MFS at autopsy or cardiac catheterization [17][18][19]. The advent of echocardiography lead to additional case reports of infants with findings of MFS at birth [20][21][22].…”