Fontaine G, Gourguechon A, Smith M
Presse Med (1893). 1979 Dec 10;8(48):3961-3.
The authors report a family of 5 subjects suffering from pseudoachondroplastic dysplasia in an autosomal dominant form. The interest of this report lies in the radiological documents obtained in the subjects at different ages (3, 18 and 63 years) and the extreme rarity of autosomal dominant forms since only six familial cases of this type have been described up to the present time.
作者报告了一个以常染色体显性形式患假性软骨发育不良的5人家庭。本报告的意义在于获得了该家族中不同年龄(3岁、18岁和63岁)个体的放射学资料,以及常染色体显性形式极为罕见,因为迄今为止仅描述过6例此类家族病例。