Nelson M M, Thomson A J
Am J Med Genet. 1982 Jun;12(2):195-9. doi: 10.1002/ajmg.1320120209.
We report two unrelated patients, a three-year-old girl and an 88/12 year-old boy with the newly described "acrocallosal" syndrome. The main manifestations of the syndrome are unusual facial appearance, pre- and postaxial polydactyly, mental retardation, and absence of the corpus callosum. Cause remains unknown.
我们报告了两名无血缘关系的患者,一名三岁女孩和一名88又1/2岁男孩,他们患有新描述的“顶体发育不全”综合征。该综合征的主要表现为面容异常、轴前和轴后多指(趾)畸形、智力发育迟缓以及胼胝体缺失。病因尚不清楚。