Clinical epidemiologic study of holoprosencephaly in South America
Clinical epidemiologic study of holoprosencephaly in South America
复制标题
DOI：
10.1002/ajmg.a.32104
复制
发表时间：
2007-12-15
影响因子：
2
通讯作者：
Castilla, Eduardo E.
中科院分区：
文献类型：
--
作者：
Orioli, Ieda M.;Castilla, Eduardo E.
拉加经委会：拉丁美洲先天性畸形研究检查了4，157，224名新生儿（1967-2000），检测370例疑似前脑无裂畸形（HPE）的新生儿：182例单纯颅面缺损占49.2%;（26.8%）有其他系统的缺陷;（15-1%）有染色体异常; 5例（1.4%）有公认的综合征; 28例（7.6%）有孤立性正中唇裂。后一组被排除在随后的分析，因为与其他群体的流行病学差异。孤立性HPE的出生患病率（BPR）在11个抽样国家中是均匀的，从1967年至2000年从0.5/10，000出生增加到1/10，000出生，这表明主要是在1996年之后的确定性有所改善。小耳畸形、唇腭裂和小口畸形与HPE优先相关，但只有腭裂与HPE无关。当添加单独和相关组时，HPE中母亲糖尿病的患病率高于对照组（OR：3.5; 95% CI：0.9-16.2）。与对照组相比，母亲流感在单独HPE（OR：3.6; 0.9-16.6）和单独加相关HPE（OR：2.8; 1.0-7.9）中更普遍。第二个更好地记录HPE病例系列，179例（2.2/10，000），从2000年至2003年发生的827，968例出生中确定，用于脑和面部异常的表型定义。在174例HPE患者中，有83例伴有特定的脑缺损，40%为无叶型，43%为半叶型，17%为叶型。所有独眼畸形、筛头畸形和头畸形的病例均为无叶型或半叶型。女性人数过多发生在总样本中，但由于样本量小，分组本身并不如此。无论是alobar HPE，也没有独眼与女性偏好。在174例HPE病例中，39%既没有唇腭裂，也没有严重的面部畸形。在面部表型中，26%有独眼畸形、筛头畸形或头畸形; 25%有前上颌骨发育不全; 10%有唇腭裂或仅腭裂。独眼畸形与口裂无关; 8例筛头畸形中6例有腭裂; 20例头畸形中6例有口裂; 20例前颌骨发育不全中4例; 20例腭裂中2例。(C)2007 Wiley-Liss，Inc.
ECLAMC: Latin American Study of Congenital Malformations examined 4,157,224 births (1967-2000), detecting 370 new-borns with suspected holoprosencephaly (HPE): 182 (49.2%) had only craniofacial defects; 99 (26.8%) had defects in other systems; (15-1%) had chromosomal anomalies; 5(1.4%) had recognized syndromes; and 28(7.6%) had isolated median cleft lip. The latter group was excluded from subsequent analyses because of epidemiological differences from the other groups. The birth prevalence rate (BPR) of isolated HPE was homogeneous among the 11 sampled countries, increasing from 0.5/10,000 births to 1/10,000 births between 1967 and 2000, suggesting improved ascertainment, mainly after 1996. Microtia, cleft lip/palate, and microstomia were preferentially associated with HPE, but cleft palate only was not. Maternal diabetes was more prevalent in HPE than in controls when adding the isolated and associated groups (OR: 3.5; 95% Cl: 0.9-16.2). Maternal flu was more prevalent in isolated HPE (OR: 3.6; 0.9-16.6) and in isolated plus associated HPE (OR: 2.8; 1.0-7.9) than in controls. A second series of better documented HPE cases, 179 in number (2.2/ 10,000), ascertained from 827,968 births occurring from 2000 to 2003, was used for phenotypic definition of cerebral and facial anomalies. In 83 of 174 HPE cases with specified cerebral defects, 40% were alobar, 43% were semilobar, and 17% were lobar. All cases of cyclopia, ethmocephaly, and cebocephaly were of the alobar or semilobar types. Female excess occurred in the total sample, but not within the subgroups themselves because of their small sample sizes. Neither alobar HPE nor cyclopia was associated with female predilection. Among the 174 HPE cases, 39% had neither oral clefting nor a severe dysmorphic face. Of facial phenotypes, 26% had cyclopia, ethmocephaly, or cebocephaly; 25% had premaxillary agenesis; and 10% had cleft lip and palate or cleft palate only. Cyclopia was not associated with oral clefts; 6 of 8 cases of ethmocephaly had cleft palate; 6 of 20 cases of cebocephaly had oral clefts; 4 of 20 cases had premaxillary agenesis; and 2 of 20 cases had cleft palate. (C) 2007 Wiley-Liss, Inc.