Journal of the Korean Pediatric Society 1959;2(1):45-49.
Published online January 31, 1959.
Han Woong Choe, Chan Yoon
Department of Pediatrics, college of medicine, Seoul, National University,Korea.
先天性 化骨不全症의 一例
崔漢 雄, 尹 燥
서울大學校 醫科大學 小兒科敎室
This one-month-old boy was admitted to the children’s ward on the 9 th of May 1958, chief complaints being bowed legs and severe crying at times of changing diaper. He is a product of full term pregnancy and was a breach presentation. At birth, his left leg was bluish and swollen, and his humerus appeared to be broken by the first bath only by normal pressure. On admission, his general condition was fairly good except for his swollen and bowed legs. Ophthalmological examination revealed blue sclera. Laboratory tests were within normal range, including the serum calcium and phosphorus and alkaline phos-phatases. Roentgenological examination revealed multiple concomittant old and healed fractures on his extremities and ribs. His parents and 3 other siblings were examined. The father and two sisters were healthy but the past histories and present conditions of his mother and the oldest sister revealed similar features with the patient’s. No signs of otosclerosis and dentigenosis imperfecta could be found in te mother, the oldest sister or the patient.

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