15名沙特女孩中I型口面指综合征的表达变异性：为何该表型中唇裂正中发生率较高？
Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?
作者信息
Al-Qattan Mohammad M, Javed K
机构信息
Plastic Surgery Division, King Saud University and Plastic Surgery Division, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
出版信息
Plast Surg (Oakv). 2014 Winter;22(4):229-32. doi: 10.4172/plastic-surgery.1000895.
BACKGROUND
It is well known that the incidence of nonsyndromal cleft lip and palate varies greatly according to ancestry: 0.3 to 0.4 per 1000 live births in blacks, one in 1000 in Caucasians, and two in 1000 in Asians and individuals from the central province of Saudi Arabia. Median cleft lip is a variable feature in oral-facial-digital syndrome type I (OFD-I).
OBJECTIVE
To test the hypothesis that genetic factors may determine the lip phenotype in OFD-I patients.
METHODS
A study involving 15 Saudi girls (from the central province of Saudi Arabia) with OFD-I showed a high rate (93.3%) of median cleft lip and palate. This rate in OFD-I patients is known to range from 33% to 56% in Caucasians and also known to be very low in blacks. The authors compared the rate of median cleft lip with or without cleft palate in the Arabian series (93.3%) with the rate in Caucasians and blacks.
RESULTS
The difference in median cleft lip with or without cleft palate among the three groups was significant.
CONCLUSION
This supports the hypothesis that ancestral genetic factors may determine the lip phenotype in OFD-I patients.
背景
众所周知，非综合征性唇腭裂的发病率因种族不同而有很大差异：黑人中每1000例活产中有0.3至0.4例，白种人中每1000例中有1例，亚洲人和沙特阿拉伯中部省份的人群中每1000例中有2例。正中唇裂是I型口面指综合征（OFD-I）的一个可变特征。
目的
检验遗传因素可能决定OFD-I患者唇表型这一假说。
方法
一项针对15名患有OFD-I的沙特女孩（来自沙特阿拉伯中部省份）的研究显示，正中唇腭裂的发生率很高（93.3%）。已知OFD-I患者中该发生率在白种人中为33%至56%，在黑人中则很低。作者将阿拉伯人群组（93.3%）中有或没有腭裂的正中唇裂发生率与白种人和黑人中的发生率进行了比较。
结果
三组中有或没有腭裂的正中唇裂发生率差异显著。
结论
这支持了祖先遗传因素可能决定OFD-I患者唇表型这一假说。
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