Soekarman D, Fryns J P
Centre for Human Genetics, University of Leuven, Belgium.
Genet Couns. 1994;5(1):77-80.
We describe a boy with the syndrome of Coffin-Lowry whose CT-scan showed corpus callosum agenesis. Follow-up data are given and diagnostic considerations are discussed. A review is given of the CNS-malformations so far reported in patients with the syndrome of Coffin-Lowry.
我们描述了一名患有科芬-洛里综合征的男孩,其CT扫描显示胼胝体发育不全。给出了随访数据并讨论了诊断方面的考虑因素。对迄今报道的科芬-洛里综合征患者的中枢神经系统畸形进行了综述。