作者: PATRICIA WINCHESTER , HERMAN GROSSMAN , WAN NGO LIM , B. SHANNON DANES
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摘要: 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 coarsened facial features anti peripheral corneal opacification. Mucopolysaccharide not excreted abnormal amounts, and mental retardation present.The differentiation from rheumatoid arthritis recognized diseases discussed.