两兄弟患先天性水平凝视麻痹和脊柱后凸侧弯
Congenital horizontal gaze palsy and kyphoscoliosis in two brothers.
作者信息
Riley E, Swift M
出版信息
J Med Genet. 1979 Aug;16(4):314-6. doi: 10.1136/jmg.16.4.314.
Abstract
In a sibship of 11, two brothers with a congenital complete horizontal gaze palsy developed severe kyphoscoliosis. No-one else in the family has a gaze palsy or comparable skeletal abnormalities. Since the parents are first cousins, an autosomal recessive mode of inheritance seems likely.
摘要
在一个11口人的家族中，两名患有先天性完全性水平凝视麻痹的兄弟出现了严重的脊柱后凸侧弯。家族中其他成员均无凝视麻痹或类似的骨骼异常。由于父母是近亲，故可能为常染色体隐性遗传模式。
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