Sanchis A, Cerveró L, Martínez A, Valverde C
Am J Med Genet. 1985 Jan;20(1):123-30. doi: 10.1002/ajmg.1320200115.
We describe a 14-month-old female infant with absence of corpus callosum, atrophy of optic nerve, peculiar face, complex polydactyly, multiple joint abnormalities, and femoral shortness. The similarities to and differences from previously reported cases of this kind suggest that our patient has a new type of acrocallosal syndrome.
我们描述了一名14个月大的女婴,她患有胼胝体缺失、视神经萎缩、面容奇特、复杂多指畸形、多关节异常以及股骨短小。与先前报道的此类病例的异同表明,我们的患者患有一种新型的胼胝体发育不全综合征。