A NEW ACID MUCOPOLYSACCHARIDOSIS WITH SKELETAL DEFORMITIES SIMULATING RHEUMATOID ARTHRITIS
| Autor: | Winchester P, Danes Bs, Grossman H, Lim Wn |
|---|---|
| Rok vydání: | 1969 |
| Předmět: |
medicine.medical_specialty
Pathology Mucopolysaccharidosis Chromosome Disorders Arthritis Rheumatoid Internal medicine medicine Deformity Humans Radiology Nuclear Medicine and imaging Child Glycosaminoglycans Chromosome Aberrations business.industry Infant General Medicine medicine.disease Radiography Endocrinology Child Preschool Rheumatoid arthritis Osteoporosis Female Winchester syndrome Bone Diseases Joint Diseases medicine.symptom business Metabolism Inborn Errors |
| Zdroj: | American Journal of Roentgenology. 106:121-128 |
| ISSN: | 1546-3141 0361-803X |
| DOI: | 10.2214/ajr.106.1.121 |
| Popis: | Two siblings are described with biochemical evidence of mucopolysaccharide storage presumably inherited as an autosomal recessive.[See figure in the PDF file]The syndrome is characterized by a progressive grotesque deformity due to intra-articular destruction. There are coarsened facial features anti peripheral corneal opacification. Mucopolysaccharide is not excreted in abnormal amounts, and mental retardation is not present.The differentiation from rheumatoid arthritis and recognized mucopolysaccharide storage diseases is discussed. |
| Databáze: | OpenAIRE |
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