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KMID : 0360919640070080769
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Journal of the Korean Medical Association
1964 Volume.7 No. 8 p.769 ~ p.774
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A CASE OF MORQUIO´S DISEASE
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孫機勇/Sohn, Ki Yong
黃琪準/李謹洙/嚴翼根/Whang, Ki Joon/Lee, Keun Soo/Uhm, Ik Kun
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Abstract
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A case of Morquio´s disease is reported in a five and ,a half years old Korean boy The child showed stunted growth, normal skull, normal intelligence, short trunk with proportionately long limbs, pectuscarinatum, deformity of the vertebral column and awaddling gait. Radiologic examinatien dieclosed evidence of disturbance of osteogenesis of the epiphyses of the bones. In contrast to the usual findings seen inthe classical Morquio´s dlisease, the boy had enamelhy poplasia of the teeth, increased inorganic phosphorus in the blood, abnornal amino-aciduria by the paper chromatography of 24-hours-urine, and a slight hearing defect by the audiogram : these may support the possibility that this case is a transitional formbetween Morquio´s disease and gargoylism. A brief review of the related literatires is presented. To the authors´ knowledge, this is the first rase reported in the Korean literatures.
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KEYWORD
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