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我科对7例多发性骨骼发育障碍呈侏儒状态的患者,进行了临床检查。证实为多发性骨骼发育不良6例,软骨发育不全1例。同时,对所在的三个家系进行了调查。报告如下: 一,家系甲为两代四名患者,一母三子发病,其父女经检测正常。家系调查97人(附图1,图中有省略,下同) 例1,女,46岁,为其母46岁,父50岁时第13胎、第13产所生。幼时无特殊。自5～6岁起,腕、肘、膝、踝等关节肿痛,但不红不热,历时两年。自此生长停滞,尤以肢短为显著,行走摇摆,四肢不可完全舒
Our department conducted a clinical examination of 7 patients with multiple hypogonadal developmental disorders. Confirmed for multiple bone dysplasia in 6 cases, 1 case of achondroplasia. At the same time, the three families where they were investigated. The report is as follows: First, the family A for two generations of four patients, a mother and three children, his father and daughter tested by the normal. Family survey 97 (Figure 1, omitted in the figure, the same below) Example 1, female, 46 years old, for the mother of 46 years old, the father of 50 years old when the 13th birth, the 13th birth. No special childhood. From 5 to 6 years old, wrist, elbow, knee, ankle and other joint swelling and pain, but not red hot, lasted two years. Since then the growth of stagnation, especially in limb short as significant, walking swaying, limbs can not be completely comfortable