Narod S A, Siegel-Bartelt J, Hoffman H J
Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Am J Med Genet. 1988 Dec;31(4):903-7. doi: 10.1002/ajmg.1320310424.
We report on the occurrence of a basilar artery embolism in a 9-year-old boy with Waardenburg syndrome type I. We examined eight other relatives and found that dystopia canthorum was present in six. One of these also had a lumbar meningomyelocele. According to descriptions provided by the grandmother of the propositus, nine other relatives were also affected.
我们报告了一名患有I型瓦登伯革氏综合征的9岁男孩发生基底动脉栓塞的病例。我们检查了其他八名亲属,发现其中六人有内眦异位。其中一人还患有腰骶部脊髓脊膜膨出。根据先证者祖母提供的描述,另外还有九名亲属也受到了影响。