Preferential associated anomalies in 818 cases of microtia in South America.
Preferential associated anomalies in 818 cases of microtia in South America.
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DOI：
10.1002/ajmg.a.35888
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发表时间：
2013-05
影响因子：
2
通讯作者：
Castilla, Eduardo E.
中科院分区：
文献类型：
--
作者：
Luquetti, Daniela V.;Cox, Timothy C.;Lopez-Camelo, Jorge;Dutra, Maria da Graca;Cunningham, Michael L.;Castilla, Eduardo E.
在大多数病例中，小耳畸形的病因尚不清楚。识别相关异常的模式(即，特定先天异常发生的频率高于预期的其他异常)是一种用于研究出生缺陷病因的方法。我们进行了一项研究，基于1967年至2009年期间参加ECLAMC(拉丁美洲先天性畸形合作研究)的医院检查的500多万例活产(LB)和死产(SB)的小耳畸形病例。我们确定了818例Lb和Sb伴有小耳畸形和至少一个额外的非相关重大先天性畸形(病例)，以及15,969例Lb和Sb除了小耳畸形外有两个或两个以上不相关的主要先天异常(对照)。采用Logistic回归分析确定优先与小耳畸形相关的先天畸形。观察到10个先天畸形的优先关联，其中大部分位于颅面部，包括面部不对称、后鼻孔闭锁和眼睑凹陷。小耳类型分析显示，唇腭裂、大口畸形、肢体矫形畸形等畸形的发生率随小耳的严重程度而增加。相反，对于其他异常，所有类型的小耳道的频率往往是相同的。基于这些结果，我们将整合与优先相关的先天性畸形相关的发育途径的数据，以用于未来研究小耳畸形的病因。
The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for research into the etiology of birth defects. We conducted a study based on cases of microtia that were diagnosed from more than 5 million live (LB)- and stillbirths (SB) examined in hospitals participating in ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 1967 and 2009. We identified 818 LB and SB with microtia and at least one additional non-related major congenital anomaly (cases) and 15,969 LB and SB with two or more unrelated major congenital anomalies except microtia (controls). A logistic regression analysis was performed to identify the congenital anomalies preferentially associated with microtia. Preferential associations were observed for 10 congenital anomalies, most of them in the craniofacial region, including facial asymmetry, choanal atresia, and eyelid colobomata. The analysis by type of microtia showed that for anomalies such as cleft lip and palate, macrostomia, and limb reduction defects, the frequency increased with the severity of the microtia. In contrast, for other anomalies the frequency tended to be the same across all types of microtia. Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia.
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影响因子：
4
作者：
Harris, J;Kallen, B;Robert, E
通讯作者：
Robert, E
DOI：
10.1159/000080776
发表时间：
2004-01-01
期刊：
COMMUNITY GENETICS
影响因子：
--
作者：
Castilla, EE;Orioli, IM
通讯作者：
Orioli, IM
DOI：
10.1597/06-250.1
发表时间：
2008-09-01
期刊：
CLEFT PALATE-CRANIOFACIAL JOURNAL
影响因子：
--
作者：
Rittler, Monica;Lopez-Camelo, Jorge S.;Mastroiacovo, Pierpaolo
通讯作者：
Mastroiacovo, Pierpaolo
DOI：
10.1002/ajmg.1320370213
发表时间：
1990-10-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
KHOURY, MJ;JAMES, LM;ERICKSON, JD
通讯作者：
ERICKSON, JD
DOI：
10.1002/bdra.20626
发表时间：
2009-11-01
影响因子：
--
作者：
Canfield, Mark A.;Langlois, Peter H.;Scheuerle, Angela E.
通讯作者：
Scheuerle, Angela E.