Spondyloepiphyseal dysplasia tarda: four cases from two families.

Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessively inherited skeletal dysplasia. We present four patients (three patients-a brother and a sister and their third cousin-in a family and one patient in another family) with SEDT-PA. All patients had short stature and stubby hands and feet.

Ochronosis with cardiovascular involvement: a case report.

Ochronosis is a rare autosomal-recessive disease, characterized by increased homogentisic acid (HGA) and substrates due to deficiency of HGA oxidase. The most common clinical presentations are homogentisic aciduria, blue-black pigment accumulation in collagen tissues, large joint arthropathies and degenerative disk diseases. However, the disease may exert very large spectrum with various system involvements.

Assessment of fatigue in patients with ankylosing spondylitis.

In this study, we evaluated fatigue by using the multidimensional assessment of fatigue (MAF) index in 68 ankylosing spondylitis (AS) patients. To determine the disease activity, functional status and quality of life, bath ankylosing spondylitis disease activity index (BASDAI), bath ankylosing spondylitis functional index (BASFI) and Short Form 36 (SF36) were used respectively. Mander enthesis index (MEI) was used for evaluation of enthesitis.