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Early-Onset Marfan Syndrome: A Case Series
- Source :
- J Pediatr Genet
- Publication Year :
- 2018
- Publisher :
- Georg Thieme Verlag KG, 2018.
-
Abstract
- Mutations in fibrillin 1 cause Marfan syndrome (MFS), an autosomal dominant disorder of the connective tissue, with multisystem manifestations. In early-onset MFS, the physical characteristics are expressed much earlier than the classical MFS. Those affected by this form generally have their mutations restricted to the gene “hotspot” region of exons 24 to 32. Historically, affected individuals usually die within the first few years of life due to heart failure secondary to severe valvular insufficiency. We report three patients with early-onset MFS, whose clinical evolution has been remarkably positive, when compared with other reported cases in the literature.
- Subjects :
- musculoskeletal diseases
Marfan syndrome
congenital, hereditary, and neonatal diseases and abnormalities
Pathology
medicine.medical_specialty
Connective tissue
macromolecular substances
03 medical and health sciences
Exon
0302 clinical medicine
medicine
Mitral valve prolapse
cardiovascular diseases
skin and connective tissue diseases
Genetics (clinical)
Early onset
0303 health sciences
business.industry
030305 genetics & heredity
medicine.disease
Valvular insufficiency
medicine.anatomical_structure
Heart failure
Pediatrics, Perinatology and Child Health
business
Fibrillin
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 2146460X and 21464596
- Database :
- OpenAIRE
- Journal :
- Journal of Pediatric Genetics
- Accession number :
- edsair.doi.dedup.....223488b9960d3b22927b2aafbabe6658