title: Neonatal Marfan syndrome: a successful early multidisciplinary approach.
abstract: Marfan syndrome (MFS) is a genetic disorder of the connective tissue which rarely manifests in the neonatal period and has an ominous prognosis. A case of a first female offspring of healthy parents is described here. The pregnancy was uneventful and the mother had a term caesarean delivery. At birth, some dysmorphic signs became apparent, such as loose redundant skin, dolichocephaly, frontal bossing, deeply sunken eyes, micrognathia, contractures of the elbows, arachnodactyly and hip dysplasia. The echocardiogram showed a mitral and tricuspid valve regurgitation and a long aortic arch. The diagnosis of neonatal MFS came forward and genetic studies revealed a de novo mutation in the fibrillin 1 (FBN1) gene. At 6 months, due to a progressive worsening of the cardiac pathology, she was submitted to mitral valvuloplasty. She is now 2 years and 10 months old, which is a remarkable feat for a child suffering from this condition.
authors.affiliation: Department of Pediatrics, Hospital Unit of Portimão, Centro Hospitalar do Algarve, Portimão, Portugal.
authors.forename: Marta
authors.initials: M
authors.lastname: Amado
authors.affiliation: Department of Pediatrics, Hospital Unit of Portimão, Centro Hospitalar do Algarve, Portimão, Portugal.
authors.forename: Maria Angelina
authors.initials: MA
authors.lastname: Calado
authors.affiliation: Department of Cardiology, Unit of Pediatric Cardiology, Hospital Dr. Nélio Mendonça, Funchal, Portugal.
authors.forename: Rui
authors.initials: R
authors.lastname: Ferreira
authors.affiliation: Centro de Genética Clínica e Patologia, Lisboa, Portugal.
authors.forename: Teresa
authors.initials: T
authors.lastname: Lourenço
mesh_terms: D001013:Aorta, Thoracic / Q000002:abnormalities*; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D007231:Infant, Newborn; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008840:Microfilament Proteins / Q000235:genetics; D008944:Mitral Valve Insufficiency / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy; D009154:Mutation / Q000235:genetics; D010348:Patient Care Team; D014262:Tricuspid Valve Insufficiency / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy; D014463:Ultrasonography; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines