Journal of the Korean Pediatric Society 1977;20(9):704-710.
Published online September 30, 1977.
A Case of Achondroplasia.
Duk Hee Kim, Kwan Sub Chung, Baik Keun Lim, Duk Jin Yun
Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
軟骨無形成症의 4例
김덕희, 정관섭, 임백근, 윤덕진
延世大學校 醫科大學 小兒科學 敎室
Abstract
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 nose and moderate degree of kyphcsis and one case was associated with hydrocephalus. X-ray showed the thickness of the bones and their irregular epiphyseal ends such as cupping, flaring and spurs. Intelligence seemed to be normal except one case. We had seen those patients at the age of 8 months, 6 months and 1year, 7months and 2 years, confirming achodroplasia by clinical, X-ray survey and biochemical study. Review of the references concerning achondroplasia was made briefly.




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