Preferential associations between oral clefts and other major congenital anomalies
Preferential associations between oral clefts and other major congenital anomalies
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DOI：
10.1597/06-250.1
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发表时间：
2008-09-01
期刊：
影响因子：
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通讯作者：
Mastroiacovo, Pierpaolo
中科院分区：
文献类型：
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作者：
Rittler, Monica;Lopez-Camelo, Jorge S.;Mastroiacovo, Pierpaolo
目的：探讨唇裂（CL =唇裂，CLP =唇裂合并腭裂，CP =腭裂）与非口腔唇裂畸形的优先相关性，从临床角度进行解释，并根据相关缺陷的模式，确定CL和CLP是否属于不同的情况。设计和设置：纳入1416例唇裂病例（CLP = 131, CLP = 565, CP = 720）， 8304例活产和死产多重先天性畸形婴儿，来自1994年至2004年间15个登记处向国际出生缺陷监测和研究信息中心报告的6,559,028例出生。建立了相关异常率，并应用多项逻辑回归来识别显著关联。结果：仅有少数缺陷与唇裂呈正相关，其中以无脑畸形、脑膨出、畸形足、耳畸形最为突出。与唇裂负相关的异常包括先天性心脏缺陷、VATER复合体（椎体缺损、肛门闭锁、气管食管瘘、桡骨和肾发育不良）和脊柱裂。结论：所有类型的唇裂与无脑畸形之间的强烈关联似乎可归因于中断的病例；CP和内翻足之间的联系似乎与胎儿运动障碍有关。（下一页继续。）一些负面关联可能取决于方法学因素，而另一些，如伴有VATER成分的唇裂或伴有脊柱裂的唇裂，可能取决于生物学因素。与CL和CLP相关的缺陷的不同模式，表明不同的潜在机制，表明CL和CLP反映的不仅仅是不同程度的严重程度，而且可能涉及不同的途径。
Objectives: To identify preferential associations between oral clefts (CL = cleft lip only, CLP = cleft lip with cleft palate, CP = cleft palate) and nonoral cleft anomalies, to interpret them on clinical grounds, and, based on the patterns of associated defects, to establish whether CL and CLP are different conditions.Design and Settings: Included were 1416 cleft cases (CL = 131, CLP = 565, CP = 720), among 8304 live- and stillborn infants with multiple congenital anomalies, from 6,559,028 births reported to the International Clearinghouse for Birth Defects Surveillance and Research by 15 registries between 1994 and 2004. Rates of associated anomalies were established, and multinomial logistic regressions applied to identity significant associations.Results: Positive associations with clefts were observed for only a few defects, among which anencephaly, encephaloceles, club feet, and ear anomalies were the most outstanding. Anomalies negatively associated with clefts included congenital heart defects, VATER complex (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia), and spina bifida.Conclusion: The strong association between all types of clefts and anencephaly seems to be attributable to cases with disruptions; the association between CP and club feet seems to be attributable to conditions with fetal akinesia. (Continued on next page.) Some negative associations may depend on methodologic factors, while others, such as clefts with VATER components or clefts with spina bifida, may depend on biological factors. The different patterns of defects associated with CL and CLP, indicating different underlying mechanisms, suggest that CL and CLP reflect more than just variable degrees of severity, and that distinct pathways might be involved.