Longevity in Schimke immuno-osseous dysplasia
نویسندگان
چکیده
منابع مشابه
Longevity in Schimke immuno-osseous dysplasia.
Schimke immuno-osseous dysplasia (SIOD) is characterised by autosomal recessive inheritance, spondyloepiphyseal dysplasia causing growth retardation, defective cellular immunity, progressive nephropathy leading to renal failure, hyperpigmented macules, and dysmorphic facial features. Half of SIOD patients also have hypothyroidism, half episodic cerebral ischaemia, and a tenth bone marrow failur...
متن کاملDental findings in the Schimke immuno-osseous dysplasia.
Schimke immuno-osseous dysplasia is a rare autosomal recessive disorder that affects primarily bone, T lymphocytes, kidneys, and skin. The patients have a triangular face, broad nasal bridge, bulbous nose tip, small palpebral fissures, short neck, long upper lip, and low hairline. Dental abnormalities of affected patients have not been discussed in detail. The patient described in this clinical...
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A 17-year-old girl (height: 16 cm below the third percentile; weight 10 kg below the third percentile) was diagnosed with familial steroid-resistant nephrotic syndrome at the age of 6 years. A renal biopsy was performed at this time, which showed that all 16 glomeruli were normal by light microscopy. Neither steroid therapy, cyclosporine A nor ACE inhibitor therapy led to remission. The patient...
متن کاملSchimke immuno-osseous dysplasia: case report and review.
We report on a patient with Schimke immunoosseous dysplasia, an autosomal recessive disorder, and review nine patients from the literature. Manifestations include spondyloepiphyseal dysplasia, lymphopenia, signs of defective cellular immunity, and progressive renal disease. This is the first patient known to have the additional findings of thrombocytopenia and microdontia.
متن کاملNon-Hodgkin Lymphoma in a Child with Schimke Immuno-Osseous Dysplasia
Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. Mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) gene are responsible for the disease. The present report describes, for the f...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.12.922