[克奈斯特发育不良]。

Radiologia diagnostica Pub Date : 1990-01-01
S Tscherninkov, A Alexandrov
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引用次数: 0

摘要

本文描述了三名患有侏儒症和骨骼缺陷的女性。其中两名患者(来自同一个家族的两代人)只有骨骼缺陷。在第三个病人中,它们还伴有与肌腱、巩膜、眼球晶状体、视网膜血管和听力丧失有关的其他症状。这就可以得出这种疾病的遗传变异的结论——比如与骨骼和其他部位有关,而胶原蛋白的劣势并不局限于骨骼。
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[Kniest's dysplasia].

Three women with dwarfism and skeletal defects characteristic for Kniest's dysplasia are described. In two of the patients (from two generations of one family) there are only skeletal defects. In the third patient they are combined with other symptoms pertaining to the tendons, the sclerae, the eye lenses, the retinal vessels and loss of hearing. This allows the conclusion of genetic variations of the disease--such pertaining to the skeleton and others, where the inferiority of collagen is not limited to the skeleton.

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