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概要

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• Case 1: A seven year old proband girl experienced frequent pathologic fractures of her legs. An examination revealed that she was of short stature and had blue sclerae, varus deformities of the thighs, and a thin cortex and sparse trabeculation of cancellous bones. However, dentinogenesis imperfecta, otosclerosis, and arthrochalasis were not noted.Case 2: The thirty-nine year old father of the proband also had a history of very frequent pathologic fractures of his legs. An examination revealed a marked short stature, and deformed legs. However, other concomitant anomalies were not observed.A family study revealed no further cases, suggesting a mutant occurrence in Case 2, with a dominant inheritance to Case 1, and the possible future inheritance to the future female offsprings of Case 1.

• 西日本整形・災害外科学会の論文

著者

• 藤樹 宏

  宮崎県立整肢学園

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