Schimke immuno-osseous dysplasia: case report and review of 25 patients
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چکیده
منابع مشابه
Schimke immuno-osseous dysplasia: case report and review of 25 patients
Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The diVerences between the two groups are not striking, and although similarities are greater between a...
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 کاملA Case Report of Schimke Immuno-Osseous Dysplasia: A Rare Autosomal Recessive Disorder
Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder presented with specific facial features, skeletal dysplasia, steroid resistance nephrotic syndrome (SRNS) and cellular immune insufficiency. This is a SIOD case reported from Iran. He was 5 years old boy when evaluated for proteinuria and short stature. In appearance, we detected hyperpigmented macules, kyphosc...
متن کاملLongevity 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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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1999
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.36.10.786