Musculo-skeletal abnormalities in patients with Marfan syndrome.

Abstract

BACKGROUND:

A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal's syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta.

METHODS:

In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization.

RESULTS:

Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly.

CONCLUSION:

This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities.

• Authors: Ali Al Kaissi, Elisabeth Zwettler, Rudolf Ganger, Simone Schreiner, Klaus Klaushofer, Franz Grill
• Journal: Clinical medicine insights. Arthritis and musculoskeletal disorders (Clin Med Insights Arthritis Musculoskelet Disord) Vol. 6 Pg. 1-9 ( 2013) ISSN: 1179-5441 [Print] United States
• PMID: 23399831 (Publication Type: Journal Article)