Angelman Syndrome:Four Cases Report and Review of Literature
Author：ZHANG Gui-ping, LI Lei, YANG Bing-zhu,et al.
affiliation：Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi 563003, Guizhou Province, China
PDFAbstract
Objective To analyze the clinical manifestations, electroencephalography(EEG) and molecular genetic test of Angelman syndrome(AS). Methods The clinical data of four AS patients were analyzed retrospectively. Results Both four patients with delayed motor milestones, intellectual disability,and with dysmorphic facial features included big mouth,flat craniumskull, happy laugh incompatible with the environment,et al. Seizures occurred in two cases. The EEG manifested as rhythmic delta and theta in anterior, posterior and generalized areas mixing spikes, and the slow waves often migrate between the different sites. Conclusion EEG is necessary to diagnosis of AS, and molecular genetic examination can be applied for further confirmation.
【Keyword】Angelman Syndrome(AS); Developmental Retardation; Electroencephalography(EEG); Genetic Examination
【Chart number】R392.13
【Document Identification Number】A
【DOI】10.3969/j.issn.1009-3257.2017.05.019
Journal of Rare Diseases
th24Volume， th 5 Issue
2019Year11Month
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