Neonatal Marfan syndrome: a successful early multidisciplinary approach.
BMJ Case Rep
; 20142014 Jun 13.
Article
en En
| MEDLINE
| ID: mdl-24928929
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 6â
months, due to a progressive worsening of the cardiac pathology, she was submitted to mitral valvuloplasty. She is now 2â
years and 10â
months old, which is a remarkable feat for a child suffering from this condition.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Aorta Torácica
/
Síndrome de Marfan
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
BMJ Case Rep
Año:
2014
Tipo del documento:
Article
País de afiliación:
Portugal