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Achondroplasia( Report of One Case and Review of Literature)

Journal of the Korean Pediatric Society 1967;10(7):385-388.
Published online July 31, 1967.
Achondroplasia( Report of One Case and Review of Literature)
Sung Gi Kim, In Kyu Kim, Dae Sung Kim, Kew Taek Kim
Depart, of Ped. Pusan National Univ. Hosp.
軟骨無形成症의 症例
金性基, 金寅圭, 金大成, 金奎宅
益山大學校 醫科大學 小兒科學敎室
A case of achondroplasia is reported in a 10 months old girl, born of Korean father and Japanese mother. This baby showed stunted growth, short arms and legs, prominent forehead, flattening of the bridge of the nose and moderate degree of kyphosis but chest contour was normal and slightly short anteroposterior diameter. Intelligence seemed to be normal. X-ray showed evidence of delayed ossification of the epiphysis of long bones and irregularities as cupping, fraying and spurs associated with mushroom-like broadenning of the end of the shafts. Thickness of the bones and their irregular epiphyseal ends were also visible. Two and half years follow up sutdy makes it possible to diagnose typical achondroplasia and patient has been put on modified type of Taylor brace in order to protect the kyphosis. All laboratory datas were normal. A brief review of the related literatures is presented.

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