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Morquio's disease之一例

A Case of Morquio's Disease

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並列摘要


A case of Morquio's disease is reported A 12 years and 8 months old female child was found to be very short in length and poorly developed in bones. The patient stood up by her-self at the age of 1(one and a half) year and walked alone at the age of 3 years. Although she was short, yet her intellegence was pretty gocd. (IQ=101) Family history was non-contributary. Physically, she showed very short 96 cm. in length, The head circumference was normal and the neck was short, 5 cm in length. Her mentality was. good, Ophthalmologically, high myopia on both eyes was reported. Moderate Kyphoscoliosis, lumbar lordosis and severe genu valgum with hypermobility of joints were noted. Blood biochemical examinations showed normal value of calcium, phosphorus, PB I and liver function test but increased urinary mucopolysaccharides. The typical roentgenological changes were flattened vertebrae, dislocation of both femoral heads, widened acetabulum thoracic kyphoscoliosis, lumbar lordosis, narrowing sciatic notch, hypoplasia and irregularity in all the carpal bones.

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