Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study.

The age-dependent penetrance of organ manifestations in Marfan syndrome (MFS) is not known. The aims of this follow-up study were to explore how clinical features change over a 10-year period in the same Norwegian MFS cohort. In 2003-2004, we investigated 105 adults for all manifestations in the 1996 Ghent nosology.

Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study.

Background Context: Dural ectasia is widening of the dural sac often seen in patients with Marfan syndrome and other hereditary connective tissue disorders. Dural ectasia can cause specific symptoms and is associated with surgical complications. The knowledge on how and at which age dural ectasia develops is incomplete.

The pulmonary artery in patients with Marfan syndrome: a cross-sectional study.

Purpose: The objectives of this study were to establish the prevalence of pulmonary artery dilatation in Marfan syndrome using modern radiological methods and to correlate the diameter of the vessel with aortic disease.

Methods: Magnetic resonance or computed tomography imaging of the pulmonary artery and aorta was performed in 87 patients with proven Marfan syndrome. Diameters of the root and trunk of the pulmonary artery and of the aortic root were measured perpendicular to the long axes of the vessels.

CT of the hips in the investigation of protrusio acetabuli in Marfan syndrome. A case control study.

Objectives: To establish the prevalence of protrusio acetabuli (PA) in adults fulfilling the Ghent criteria for Marfan syndrome (MFS), and in a normal adult population.

Methods: 105 adults with probable MFS and 107 controls were included. CT of the hips was obtained.

Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome.

The prevalence of each single feature in the Ghent criteria in patients with Marfan syndrome (MFS) is not known. To elucidate this, a cross-sectional study of 105 adults with presumed MFS was carried out. All patients were examined by the same group of investigators with standardized and complete assessment of all features in the Ghent criteria.

Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.

In monogenic disorders, correlation between genotype and phenotype is a premise for predicting prognosis in affected patients. Predictive genetic testing may enable prophylaxis and promote clinical follow-up. Although Marfan syndrome (MFS) is known as a monogenic disorder, according to the present diagnostic criteria a mutation in the gene FBN1 is not sufficient for the diagnosis, which also depends on the presence of a number of clinical, radiological, and other findings.

[Pyridoxine-dependent seizures].

Background: Pyridoxine-dependent seizures is an autosomal, recessively inherited inborn error of metabolism with recurrent long-lasting seizures with onset usually in infancy, but also up to three years of age. The seizures are resistant to conventional anticonvulsants. The condition ends fatally if diagnosis and administration of pyridoxine (vitamin B6 ) in pharmacological doses is delayed too long.