[腭裂与威廉姆斯综合征]
[Cleft palate and Williams syndrome].
作者信息
Vincent C, Mercier J-M, David A
机构信息
Service de chirurgie maxillofaciale, stomatologie et chirurgie plastique de la face, Hôtel-Dieu, CHU de Nantes, 1, place Alexis-Ricordeau, 44000 Nantes, France.
出版信息
Rev Stomatol Chir Maxillofac. 2008 Feb;109(1):44-7. doi: 10.1016/j.stomax.2007.10.005. Epub 2007 Dec 27.
INTRODUCTION
Cleft palate is not one of the malformations in the Williams-Beuren syndrome.
OBSERVATION
We report the case of a female patient affected by Williams syndrome, presenting with a cleft palate. The diagnosis of Williams-Beuren syndrome was confirmed by genetic analysis.
DISCUSSION
Cleft palate with a Williams syndrome can be fortuitous given these two affections' frequency. The prevalence of Williams syndrome is 1/7500 to 1/10,000 births and palatine division 1/2000 to 1/2500. Cleft palate might also be a rare entity of Williams syndrome. We cannot be sure that the two are linked.
引言
腭裂并非威廉姆斯-贝伦综合征的畸形之一。
观察
我们报告一例患有威廉姆斯综合征的女性患者，伴有腭裂。通过基因分析确诊为威廉姆斯-贝伦综合征。
讨论
鉴于这两种病症的发病率，威廉姆斯综合征合并腭裂可能是偶然情况。威廉姆斯综合征的患病率为每7500至10000例出生中有1例，腭裂的患病率为每2000至2500例中有1例。腭裂也可能是威廉姆斯综合征的一种罕见表现。我们无法确定两者是否存在关联。
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