Calzolari E, Milan M, Cavazzuti G B, Cocchi G, Gandini E, Magnani C, Moretti M, Garani G P, Salvioli G P, Volpato S
Istituto di Genetica Medica, Università Ferrara, Italy.
Teratology. 1988 Dec;38(6):559-64. doi: 10.1002/tera.1420380603.
Epidemiological and genetic variables in clefts were analyzed during the years 1978-1986 in a case-control study of congenital malformations in the Emilia Romagna region of northern Italy. Among 150,168 newborns, 200 cases of cleft were detected, yielding a prevalence of 1.33 per 1,000. These clefts consisted of 112 (0.075%) cases of cleft lip with or without cleft palate (CL +/- P) and 88 cases (0.058%) of cleft palate (CP). Coexisting abnormalities were found in 32% of cases. The heritability coefficient of CL +/- P was 0.84. No cluster in time or space could be demonstrated. Epilepsy was the only maternal risk factor found to be correlated with clefts. A predominance of males was found among CL +/- P cases.
1978年至1986年间,在意大利北部艾米利亚-罗马涅地区进行的一项先天性畸形病例对照研究中,分析了腭裂的流行病学和遗传变量。在150,168名新生儿中,检测出200例腭裂病例,患病率为每1000例中有1.33例。这些腭裂包括112例(0.075%)唇裂伴或不伴腭裂(CL +/- P)和88例(0.058%)腭裂(CP)。32%的病例存在合并异常。CL +/- P的遗传系数为0.84。未发现时间或空间上的聚集现象。癫痫是唯一被发现与腭裂相关的母亲风险因素。在CL +/- P病例中发现男性占主导。