| Juvenile variant of Schimke immunoosseous dysplasia. | |
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MedLine Citation:
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PMID: 8209883 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a 16-year-old girl with spondyloepiphyseal dysplasia, nephrotic syndrome, lymphopenia, and signs of defective cellular immunity. The manifestations are very similar to those reported by Spranger et al. [1991: J. Pediatr 119: 64-72] as Schimke immunoosseous dysplasia, except for age of onset. In Schimke immunoosseous dysplasia, growth retardations as an initial symptom is noted in early childhood and about 1 year after onset of progressive proteinuria. In our case the skeletal abnormality was noted at age 10 years as dislocation of the hip joints and the diagnosis of nephrotic syndrome was made at age 16 years. The findings strongly suggest that our patient has a juvenile variant of Schimke immunoosseous dysplasia. |
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Authors:
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K Hashimoto; A Takeuchi; A Ieshima; M Takada; M Kasagi |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 49 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1994 Feb |
Date Detail:
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Created Date: 1994-07-08 Completed Date: 1994-07-08 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 266-9 Citation Subset: IM |
Affiliation:
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Division of Child Neurology, Tottori University School of Medicine, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Female Humans Immunity, Cellular / genetics Immunologic Deficiency Syndromes / complications, genetics Lymphopenia / complications, genetics Nephrotic Syndrome / complications, genetics, pathology Osteochondrodysplasias / complications, genetics*, radiography |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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