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Genetics of cleft lip and cleft palate.唇腭裂的遗传学。
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2
Descriptive epidemiology of cleft lip and cleft palate in Western Australia.西澳大利亚唇腭裂的描述性流行病学
Birth Defects Res A Clin Mol Teratol. 2013 Feb;97(2):101-8. doi: 10.1002/bdra.23110. Epub 2013 Feb 1.
3
Placental trophoblast cell differentiation: physiological regulation and pathological relevance to preeclampsia.胎盘滋养层细胞分化:子痫前期的生理调节和病理相关性。
Mol Aspects Med. 2013 Oct;34(5):981-1023. doi: 10.1016/j.mam.2012.12.008. Epub 2012 Dec 28.
4
Epidemiology of oral clefts 2012: an international perspective.2012年口腔颌面部裂隙的流行病学:国际视角
Front Oral Biol. 2012;16:1-18. doi: 10.1159/000337464. Epub 2012 Jun 25.
5
Genetic study on developmental dysplasia of the hip.髋关节发育不良的遗传学研究。
Eur J Clin Invest. 2012 Oct;42(10):1121-5. doi: 10.1111/j.1365-2362.2012.02682.x. Epub 2012 May 17.
6
MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice.MLK3 在小鼠中调控 faciogenital dysplasia 蛋白 FGD1 下游的骨骼发育。
J Clin Invest. 2011 Nov;121(11):4383-92. doi: 10.1172/JCI59041. Epub 2011 Oct 3.
7
Genetics of syndromic and nonsyndromic cleft lip and palate.综合征型和非综合征型唇腭裂的遗传学
J Craniofac Surg. 2011 Sep;22(5):1722-6. doi: 10.1097/SCS.0b013e31822e5e4d.
8
Preeclampsia, a disease of the maternal endothelium: the role of antiangiogenic factors and implications for later cardiovascular disease.子痫前期——一种母体血管内皮疾病:抗血管生成因子的作用及对后期心血管疾病的影响
Circulation. 2011 Jun 21;123(24):2856-69. doi: 10.1161/CIRCULATIONAHA.109.853127.
9
Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up.出生时和 1 年随访期间伴有口腔裂的婴儿的相关畸形。
Am J Med Genet A. 2011 Jul;155A(7):1588-96. doi: 10.1002/ajmg.a.34046. Epub 2011 Jun 10.
10
Cleft lip and palate: understanding genetic and environmental influences.唇腭裂:了解遗传和环境的影响。
Nat Rev Genet. 2011 Mar;12(3):167-78. doi: 10.1038/nrg2933.

哥伦比亚人群中与综合征型口面部裂隙相关的临床特征

Clinical Aspects associated with Syndromic forms of Orofacial Clefts in a Colombian population.

作者信息

Arias Urueña Liliana, Briceño Balcazar Ignacio, Martinez Lozano Julio, Collins Andrew, Uricoechea Patiño Daniel Alfredo

机构信息

Medical School. Universidad de La Sabana, Bogota, Colombia.

Medical School. Universidad de La Sabana, Bogota, Colombia; Pontificia Universidad Javeriana. Bogota, Colombia.

出版信息

Colomb Med (Cali). 2015 Dec 30;46(4):162-7.

PMID:26848196
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4732505/
Abstract

OBJECTIVES

To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases.

METHODS

A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period.

RESULTS

The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms.

CONCLUSIONS

These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out.

摘要

目的

呈现口腔颌面裂隙的描述性流行病学特征,并确定综合征型与产前高危状况、早产及嵌套病例系列中的合并症之间的关联。

方法

开展了一项嵌套病例系列研究。确定了裂隙类型、相关先天性异常、综合征型、非综合征型及多重畸形形式的频率,以及根据性别和患侧划分的口腔颌面裂隙分布情况。计算比值比作为综合征型与产前高危状况、早产及合并症之间关联的衡量指标。在12个月期间共评估了311例口腔颌面裂隙患者。

结果

最常见的口腔颌面裂隙类型是唇腭裂,这种类型的裂隙在男性中更为常见,而腭裂在女性中更为常见。最常见的病例为非综合征型。在综合征型中,阿斯克格-斯科特综合征的发生率最高。妊娠期高血压疾病、髋关节发育不良、中枢神经系统疾病和呼吸衰竭与综合征型存在显著的统计学关联(p<0.05)。

结论

这些数据提供了哥伦比亚口腔颌面裂隙的流行病学参考。确定了综合征型与临床变量之间的新关联。为了研究这些变量之间的因果关系,必须开展进一步研究。