Marfan Syndrome (Subscribe)  

- scoliosis occurs in the majority of patients w/ Marfan's syndrome, (over 60%) but curvatures significant enough to require treatment occur in only 20% of pts; - risk of progression: ...

Orthopaedic aspects of Marfan's Syndrome Search string "Marfan Syndrome"[MAJR] Orthopaedic URL (this is too long for the database) http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=pubmed&details_term=%22Marfan%20Syndrome%22%5BMAJR%5D%20AND%20%28orthopedic%5BText%20Word%5D%20OR%20%28%22orthopedics%22%5BTIAB%5D%20NOT%20Medline%5BSB%5D%29%20OR%20%22orthopedics%22%5BMeSH%20Terms%5D%20OR%20orthopaedic%5BText%20Word%5D%29

connective-tissue disorder: autosomal dominant, 15% sporadic
* cardiovascular system (prob. cause of death in 93%)
o aortic aneurysm (mostly ascending)
o dilatation of aortic sinuses
...

Marfan syndrome may cause or feature Miscellaneous syndromes Hypokalaemic distal renal tubular acidosis Symptoms and Signs Arachnodactyly Enophthalmos High arched palate Lens dislocation Marfanoid habitus Micrognathia Scoliosis Tall stature Congenital conditions Retrognathia Mendelian inherited conditions Megalocornea Cardiac and vascular conditions Aneurysms Aortic valve incompetence Mitral valve incompetence Respiratory conditions Pneumothorax may be a risk factor for Congenital conditions Sinus of Valsalva aneurysm Cardiac and vascular conditions Dissecting aortic aneurysm may be associated with Autosomal dominant...

Marfan syndrome (MFS) is a spectrum disorder caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. The defect itself has been isolated to FBN1 gene on chromosome 15, which codes for the connective tissue protein, fibrillin. Abnormalities in this protein cause a...

Author: Harold Chen, MD, MS, FAAP, FACMG, Professor, Department of Pediatrics, Chief, Genetic Laboratory Services, Louisiana State University Medical Center
Synonyms and related keywords: Marfan's syndrome, Marfan disease, Marfan's disease, inherited connective tissue disorder, fibrillin-1 gene, FBN1 gene, ectopia lentis, mitral valve prolapse, mitral regurgitation, aortic root dilatation, aortic dissection, chronic...

Definition
Heterogeneous group of disorders
Inheritable generalized disorder of connective tissue
Common findings of
* Skeletal changes
* Lens dislocation
* Cardiovascular disease

Marfan syndrome Objectives
1. Describe the genetic basis of Marfan syndrome
2. List the skeletal diagnostic criteria for diagnosis of Marfan syndrome from the Berlin 1986 nosology
3. Discuss major factors affecting mortality of patients with Marfan syndrome
4. Discuss the orthopaedic problems...

Definition
Inheritable disorder of connective tissue
Epidemiology
Male = Female
1 in 5000
Nil geographical variation

Discussion: - older names include dolichostenomelia (Greek for long, narrow limbs) and dystrophia mesodermalis congenital, typus Marfanis; - inherited as an autosomal dominant trait with variable expressivity. - characterized by long, thin limbs and by laxity of ligaments;

A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British...