Hunter A G, Macpherson R I
Am J Med Genet. 1978;2(3):267-73. doi: 10.1002/ajmg.1320020307.
We report a girl with profound mental retardation who, at 3 years of age, began to show a progressive osteosclerosis on bone roentgenograms. The bony changes were slightly suggestive of osteopetrosis from which they differed by a number of unusual features.
我们报告一名患有严重智力发育迟缓的女孩,她在3岁时,骨骼X线片上开始出现进行性骨硬化。这些骨骼变化略有骨石化的迹象,但在许多不寻常的特征上与之不同。