Robert E, Källén B, Harris J
Institut Européen des Génomutations, Lyon, France.
J Craniofac Genet Dev Biol. 1996 Oct-Dec;16(4):234-41.
Using data from three registries of congenital anomalies based on a total of more than 5 million births, some epidemiological characteristics were studied for 8,315 infants with cleft lip and/or cleft palate. There was a racial variation in the rate of cleft lip/palate within the California program but also a marked difference in rate between the three programs-France, Sweden, and California-that is probably not mainly a result of variable ascertainment but of real differences between the populations. The main analysis was made on cases without a known chromosome anomaly. The classical sex distribution was found with an excess of males at cleft lip/ palate. The sex ratio was lower (= more normal) when associated nonfacial malformations existed. Pierre Robin type cleft palate had a near-normal sex distribution while other types of cleft palate had the usual excess of females. Twinning was increased for all facial clefts irrespective of type but was more common when nonfacial associated malformations were present than when the cleft was isolated. Among cases with isolated clefts, the total twin increase was not statistically significant but the proportion of monozygotic twins was increased. There was a U-shaped maternal age relationship for cleft lip/palate that was not seen for median cleft palate (although an indicated increased risk for infants of teen-age mothers existed). For all types of cleft, there was an increased risk at high parity also after standardization for maternal age.
利用来自三个先天性异常登记处的数据(基于总计超过500万例出生记录),对8315例唇裂和/或腭裂婴儿的一些流行病学特征进行了研究。在加利福尼亚项目中唇腭裂发生率存在种族差异,而且在法国、瑞典和加利福尼亚这三个项目之间发生率也存在显著差异,这可能主要不是由于确诊差异,而是由于人群之间的实际差异。主要分析针对无已知染色体异常的病例。发现了典型的性别分布,唇腭裂男性多于女性。当伴有非面部畸形时,性别比更低(即更接近正常)。皮埃尔·罗宾型腭裂的性别分布接近正常,而其他类型的腭裂女性通常更多。所有类型的面部裂,无论其类型如何,双胎发生率均增加,但当伴有非面部畸形时比单纯腭裂时更常见。在单纯腭裂病例中,双胎总数的增加无统计学意义,但单卵双胎的比例增加。唇腭裂存在U形的母亲年龄关系,而正中腭裂未见此关系(尽管十几岁母亲的婴儿存在风险增加迹象)。对于所有类型的腭裂,在对母亲年龄进行标准化后,高龄产妇的风险也增加。