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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. Their radiographs(More)
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(More)
Address for Correspondence: Dr. Yasemin Turan, Adnan Menderes Üniversitesi Tıp Fakültesi, Fiziksel Tıp ve Rehabilitasyon Anabilim Dalı, Aydın, Turkey Phone: +90 256 444 12 56 E-mail: doi: 10.5152/tjr.2010.32 Özet Romatolojik hastalıklarda çakışma sendromlu hastalara sıklıkla rastlanılmakla birlikte, Behcet hastalığı ve ankilozan(More)
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