An adult female with spondyloepiphyseal dysplasia tarda.
نویسندگان
چکیده
منابع مشابه
X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly.
STUDY DESIGN Report of a family affected with X-linked spondyloepiphyseal dysplasia tarda with special respect to radiologic alterations of the spine from puberty to the forth decade and to molecular analysis of the underlying genetic defect. OBJECTIVES To report the typical radiologic presentation of patients with X-linked spondyloepiphyseal dysplasia tarda and the diagnostic tool of mutatio...
متن کاملThree 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...
متن کاملSpondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation.
A new variant of spondyloepiphyseal dysplasia tarda with mild to moderate mental retardation is described in three daughters born to healthy, consanguineous parents. The mode of inheritance is compatible with that of an autosomal recessive disorder. The identification of this variant is important, as it enables more precise counselling in families in which sporadic cases with this form of prese...
متن کاملPseudoseptic pseudogout in progressive pseudorheumatoid arthritis of childhood.
Progressive pseudorheumatoid arthritis of childhood is an uncommon arthropathy of unknown aetiology, which is related to spondyloepiphyseal dysplasia tarda. Previous reports have noted the absence of joint inflammation in this disease. An adult is described here with this arthropathy, who developed episodic acute inflammatory arthritis that mimicked septic arthritis, but proved to be pseudogout...
متن کاملA family with multiple musculoskeletal abnormalities.
A family with multiple musculoskeletal abnormalities is reported. The disorder is characterised by platyspondyly, abnormality of the upper femoral epiphyses, and the development of precocious osteoarthritis. It is proposed that this family represents an example of autosomal dominantly inherited spondyloepiphyseal dysplasia tarda (SED tarda).
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 19 3 شماره
صفحات -
تاریخ انتشار 1982