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捷克斯洛伐克的口面部裂隙。19年间唇腭裂的发病率、遗传学及预防。

Orofacial clefts in Czechoslovakia. Incidence, genetics and prevention of cleft lip and palate over a 19-year period.

作者信息

Tolarová M

出版信息

Scand J Plast Reconstr Surg Hand Surg. 1987;21(1):19-25. doi: 10.3109/02844318709083574.

DOI:10.3109/02844318709083574
PMID:3296142
Abstract

The precise value of incidence was calculated based on the sample of 3,660 probands with orofacial clefts born in Bohemia between 1964-1982, as all cases born in this region and time were registered. For non-syndromic cases, the incidence of cleft lip was 0.4396 per 1,000 live birth, 0.7684 for cleft lip and palate and 0.6024 for isolated cleft palate. The sample of 4,950 of our older probands born between 1886-1963 was added and the whole sample of 8,250 individuals was evaluated with respect to sex-ratio, laterality, clinical severity, seasonal incidence and age of parents. The risk of recurrence and value of heritability were calculated as well. Based on these evaluations, a four-threshold multifactorial model for cleft lip and palate was suggested and also confirmed by our results of primary prevention of orofacial clefts using periconceptional supplementation with vitamins and folic acid.

摘要

发病率的精确值是根据1964年至1982年在波希米亚出生的3660例患有口面部裂隙的先证者样本计算得出的,因为该地区和该时间段内出生的所有病例均已登记。对于非综合征性病例,唇裂的发病率为每1000例活产0.4396,唇腭裂为0.7684,孤立性腭裂为0.6024。我们纳入了4950例出生于1886年至1963年的年龄较大的先证者样本,并对8250例个体的整个样本进行了性别比例、侧别、临床严重程度、季节性发病率和父母年龄方面的评估。还计算了复发风险和遗传度值。基于这些评估,提出了唇腭裂的四阈值多因素模型,我们使用围孕期补充维生素和叶酸对口面部裂隙进行一级预防的结果也证实了该模型。

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