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KMID : 0367419790200090040
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Journal of Korean Pediatric Society
1979 Volume.20 No. 9 p.40 ~ p.46
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4 Cases of Achondroplasin
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김덕희/Kim, Duk Hee
정관섭/임백근/윤덕진/Chung, Kwan Sub/Lim, Baik Keun/Yun, Duk Jin
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Abstract
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Achondroplasia is a rare disease and characterized by the combination of short extremities with an enlarged head and a trunk approximating normal size. We had experienced 4 cases of achondroplasia; they all showed stunted growth, short arms and legs, prominent forehead, flattening of the bridge of the rese and moderate degree of kyphosis and one case was associated. with hydrocephalus. X-ray skewed the thickness of the bones and their irregu!ar epiphyseal ends such as cupping, flaring and spurs. Intelligence seemed to be normal except one case. We had seen these patients at the age of 8 months. 6months and I year. -, months and 2 years, confirming achcdroplasia ry clinical, X-ray survey and biochemical study. Review of the references concerning,: achondroplasia was made briefly.
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