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Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition
- Source :
- Congenital heart disease. 2(5)
- Publication Year :
- 2008
-
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.
- Subjects :
- musculoskeletal diseases
Marfan syndrome
Male
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Contracture
Fibrillin-1
Mutation, Missense
Prenatal diagnosis
macromolecular substances
Bioinformatics
medicine.disease_cause
Fibrillins
Marfan Syndrome
Exon
Cytosine
Fatal Outcome
Internal medicine
Prenatal Diagnosis
Medicine
Missense mutation
Humans
Radiology, Nuclear Medicine and imaging
cardiovascular diseases
skin and connective tissue diseases
Mutation
business.industry
Microfilament Proteins
Infant, Newborn
General Medicine
Exons
medicine.disease
Musculoskeletal Abnormalities
Endocrinology
Early Diagnosis
In utero
Cardiovascular Diseases
Pediatrics, Perinatology and Child Health
Flexion contractures
Surgery
Cardiology and Cardiovascular Medicine
business
Fibrillin
Thymine
Subjects
Details
- ISSN :
- 17470803
- Volume :
- 2
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Congenital heart disease
- Accession number :
- edsair.doi.dedup.....610810e2653afe639f4ea5d1953aa58a