An adult female with spondyloepiphyseal dysplasia tarda

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Spondyloepiphyseal dysplasia tarda with progressive arthropathy.

Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare autosomal recessive skeletal dysplasia affecting primarily the articular cartilage. Here we present a nine-year-old girl from Middle Anatolia (Sivas) with SEDT-PA. Her complaints were pain and progressive deformity of the joints. She had a short stature with increased thoracic kyphosis and lumbar lordosis. The r...

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Corneal changes in spondyloepiphyseal dysplasia tarda.

BACKGROUND A new type of corneal opacity with prominent corneal nerve fibers as an ocular complication of spondyloepiphyseal dysplasia tarda (SEDT). CASE A 58-year-old woman, diagnosed with SEDT at 5 years of age, underwent a complete ophthalmological examination. OBSERVATIONS The patient had no complaints and no history of eye disease. No relatives were reported to have suffered from SEDT....

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Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family

Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia...

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Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder

Spondyloepiphyseal dysplasia tarda (SEDT) is a rare genetic disease in which patient suffers from short stature, short trunk and neck with disproportionately long arms, coxa vara, skeletal features such as barrel shaped chest, kyphosis, scoliosis and early arthropathy. Only limited medical and surgical management is available in modern medicine. A 15 years old male suffering from SEDT and diagn...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1982

ISSN: 1468-6244

DOI: 10.1136/jmg.19.3.234