title: Cerebellar infarction in a patient with Waardenburg syndrome.
abstract: 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.
authors.affiliation: Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: S A
authors.initials: SA
authors.lastname: Narod
authors.forename: J
authors.initials: J
authors.lastname: Siegel-Bartelt
authors.forename: H J
authors.initials: HJ
authors.lastname: Hoffman
mesh_terms: D000015:Abnormalities, Multiple / Q000150:complications*; D002531:Cerebellum / Q000002:abnormalities / Q000098:blood supply*; D002533:Cerebral Angiography; D002544:Cerebral Infarction / Q000209:etiology*; D002648:Child; D006801:Humans; D008297:Male; D010375:Pedigree; D014715:Vertebrobasilar Insufficiency / Q000209:etiology; D014849:Waardenburg Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics