Van Daele S G, Van Coster R N, Meire F, Smets A M, Leroy J G
Department of Pediatrics, Ghent University, School of Medicine, Belgium.
Am J Med Genet. 1996 Oct 28;65(3):205-8. doi: 10.1002/(SICI)1096-8628(19961028)65:3<205::AID-AJMG6>3.0.CO;2-O.
We have studied a girl with fibrotic extrinsic eye muscles, Axenfeld anomaly, unusual facial appearance, mild hydrocephaly, and neurodevelopmental delay. Her condition is similar to the one described recently in members of a single family by Chitty et al. [1991, Am J Med Genet 40:417-420]. We suggest that she represents a second example of what may be called the Chitty syndrome.
我们研究了一名患有纤维化眼外肌、阿克森费尔德异常、特殊面容、轻度脑积水和神经发育迟缓的女孩。她的病情与Chitty等人[1991年,《美国医学遗传学杂志》40:417 - 420]最近在一个家族成员中描述的情况相似。我们认为她是所谓的Chitty综合征的第二个病例。