威廉氏症候群

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Williams syndrome
分類系統及外部資源
ICD-10 Q93.8
ICD-9 758.9
OMIM 194050
MedlinePlus 001116
eMedicine ped/2439
MeSH D018980

威廉氏症候群英语Williams–Beuren syndrome, WBS)是一種罕見的神經發育異常英语Neurodevelopmental disorder,患者鼻根較低,擁有像小精靈的外觀,且臉部特徵隨年齡增長而更加明顯。大部分病人智能不足但語言能力較正常人好,行為舉止異常興奮且不怕生。症狀還包括心血管疾病如主动脉瓣上狭窄英语Supravalvar aortic stenosis高血鈣英语Hypercalcaemia,此病在描述尚不完全時曾被部分醫師稱為自發性嬰兒高血鈣(idiopathic infantile hypercalcemia)。

威廉氏症候群最早於1961年由紐西蘭心臟學家J.C.P. Williams發現[1],其病因為7號染色體長臂約26個基因的缺失,發生率介於1/7500與1/20000之間[2]

參考資料[编辑]

  1. ^ Dobbs, David. The Gregarious Brain.. New York Times. July 8, 2007 [2007-09-25]. "If a person suffers the small genetic accident that creates Williams syndrome, he’ll live with not only some fairly conventional cognitive deficits, like trouble with space and numbers, but also a strange set of traits that researchers call the Williams social phenotype or, less formally, the “Williams personality”: a love of company and conversation combined, often awkwardly, with a poor understanding of social dynamics and a lack of social inhibition." 
  2. ^ Martens MA, Wilson SJ, Reutens DC. Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol Psychiatry. 2008, 49 (6): 576–608. doi:10.1111/j.1469-7610.2008.01887.x. PMID 18489677.