Schimke immunoosseous dysplasia: defining skeletal features
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 کاملSkeletal and Dental Features of Cleidocranial Dysplasia
1 Department of Oral Medicine and Radiology, A B Shetty Memorial Institute of Dental Sciences Nitte University, Deralakatte, Mangalore-575 018, Karnataka, India. 2 MAHE Institute of Dental Sciences and Hospital, Chalakkara, Pallor, Manipal University, Manipal, Karnataka, India. 3 Department of Periodontics, A B Shetty Memorial Institute of Dental Sciences, Nitte University, Deralakatte, Mangalo...
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 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...
متن کاملDisseminated cutaneous papillomas in Schimke immuno-osseous dysplasia
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...
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ژورنال
عنوان ژورنال: European Journal of Pediatrics
سال: 2009
ISSN: 0340-6199,1432-1076
DOI: 10.1007/s00431-009-1115-9