Källén B, Harris J, Robert E
Tornblad Institute, University of Lund, Sweden.
J Craniofac Genet Dev Biol. 1996 Oct-Dec;16(4):242-8.
Using data from a French, the Swedish, and the California registries of congenital anomalies based on a total of more than 5 million births, the presence of nonfacial malformations in infants with cleft lip or cleft palate was studied. Cleft lip was less often associated with chromosome anomalies than cleft lip with cleft palate, but when all cleft lip/palate infants were compared with all infants with median cleft palate, chromosome anomalies were equally common. Ascertainment of chromosome anomalies in infants with facial clefts varied among programs. One hundred and twenty-one infants with non-chromosomal syndromes were identified-also, for these a marked variability between programs existed. An analysis of the type of associated malformations was made, comparing cleft lip/palate and median cleft palate infants. Some associations specific for the cleft types were described but to a large extent similar associations were found irrespective of cleft type. This may indicate that under certain circumstance, the various cleft types may have similar causes.
利用来自法国、瑞典和加利福尼亚先天性异常登记处的数据,这些数据基于总计超过500万例出生情况,对唇裂或腭裂婴儿中非面部畸形的存在情况进行了研究。与唇腭裂相比,唇裂与染色体异常的关联较少,但当将所有唇腭裂婴儿与所有正中腭裂婴儿进行比较时,染色体异常同样常见。各项目中面部裂婴儿染色体异常的确诊情况各不相同。共识别出121例患有非染色体综合征的婴儿,而且各项目之间也存在显著差异。对相关畸形的类型进行了分析,比较了唇腭裂婴儿和正中腭裂婴儿。描述了一些特定于腭裂类型的关联,但在很大程度上,无论腭裂类型如何,都发现了类似的关联。这可能表明,在某些情况下,各种腭裂类型可能有相似的病因。