Molecular biology of marfan syndrome

Marfan syndrome.

DIFFUSE ARTER IAL ECTASIA IN MARFAN SYNDROME

A 22 year old male referred with palpitation. General appearance and physical exam impressed us in that the patient has Marfan syndrome. Cardiac catheterization showed diffuse arterial ectasia. We found no previous report of this generalized diffuse ectasia.

The molecular genetics of Marfan syndrome and related disorders.

Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene for fibrillin-1 (FBN1). The leading cause of premature death in untreated individuals with MFS is acute aortic dissection, which often follows a period of progressive dilatatio...

Molecular biology of Turner's syndrome.

Turner's syndrome was first described in 19381 and results in a clinical picture most frequently comprising short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The clinical phenotype can be extremely variable even in patients with the same karyotype. The chromosomal basis of the condition was established in 1...

Molecular biology of Turner's syndrome

Turner's syndrome was first described in 19381 and results in a clinical picture most frequently comprising short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The clinical phenotype can be extremely variable even in patients with the same karyotype. The chromosomal basis of the condition was established in 1...