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Replication analysis of 15 susceptibility loci for nonsyndromic cleft lip with or without cleft palate in an italian population.意大利人群中15个非综合征性唇裂伴或不伴腭裂易感基因座的复制分析。
Birth Defects Res A Clin Mol Teratol. 2016 Feb;106(2):81-7. doi: 10.1002/bdra.23454. Epub 2015 Dec 9.
2
Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway.亚洲人群中伴有或不伴有腭裂的非综合征性唇裂:叶酸代谢途径三个基因多态性的关联分析
Arch Oral Biol. 2016 Jan;61:79-82. doi: 10.1016/j.archoralbio.2015.10.019. Epub 2015 Oct 27.
3
E-CADHERIN CODING GENE (CDH1) AND NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE: IS THERE ANY ASSOCIATION?E-钙黏蛋白编码基因(CDH1)与非综合征性唇裂伴或不伴腭裂:是否存在关联?
J Biol Regul Homeost Agents. 2015 Jul-Sep;29(3 Suppl 1):117-22.
4
Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population.伊朗人群中唇腭裂(伴或不伴腭裂)与IRF6基因多态性的家系关联分析
Clin Oral Investig. 2015 May;19(4):891-4. doi: 10.1007/s00784-014-1305-3. Epub 2014 Sep 16.
5
RFC1 and non-syndromic cleft lip with or without cleft palate: an association based study in Italy.RFC1与非综合征性唇裂伴或不伴腭裂:意大利的一项基于关联的研究
J Craniomaxillofac Surg. 2014 Oct;42(7):1503-5. doi: 10.1016/j.jcms.2014.04.021. Epub 2014 May 2.
6
Evidence of the involvement of the DHFR gene in nonsyndromic cleft lip with or without cleft palate.二氢叶酸还原酶(DHFR)基因参与非综合征性唇裂伴或不伴腭裂的证据。
Eur J Med Genet. 2014 Jan;57(1):1-4. doi: 10.1016/j.ejmg.2013.12.002. Epub 2013 Dec 20.
7
PDGFRa mutations in humans with isolated cleft palate.人类单纯腭裂中 PDGFRa 突变。
Eur J Hum Genet. 2012 Oct;20(10):1058-62. doi: 10.1038/ejhg.2012.55. Epub 2012 Apr 4.
8
Cleft lip, cleft palate, and velopharyngeal insufficiency.唇裂、腭裂和腭咽闭合不全。
Plast Reconstr Surg. 2011 Oct;128(4):342e-360e. doi: 10.1097/PRS.0b013e3182268e1b.
9
Study of the 12q13 region in nonsyndromic cleft lip with or without cleft palate.非综合征型唇裂伴或不伴腭裂中 12q13 区域的研究。
Int J Immunopathol Pharmacol. 2011 Apr-Jun;24(2 Suppl):21-4. doi: 10.1177/03946320110240S205.
10
Evidence of LEF1 fetal-maternal interaction in cleft lip with or without cleft palate in a consistent Italian sample study.在一个一致的意大利样本研究中,LEF1 胎儿-母体相互作用的证据存在于唇裂伴或不伴腭裂中。
Int J Immunopathol Pharmacol. 2011 Apr-Jun;24(2 Suppl):15-9. doi: 10.1177/03946320110240S204.

仅腭裂:当前概念

Cleft palate only: current concepts.

作者信息

Tettamanti L, Avantaggiato A, Nardone M, Silvestre-Rangil J, Tagliabue A

机构信息

Department of Medicine and Surgery, University of Insubria, Varese, Italy.

Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy.

出版信息

Oral Implantol (Rome). 2017 Apr 10;10(1):45-52. doi: 10.11138/orl/2017.10.1.045. eCollection 2017 Jan-Mar.

DOI:10.11138/orl/2017.10.1.045
PMID:28757935
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5516429/
Abstract

Cleft palate only (CPO) is one of the most common congenital malformations worldwide. The etiopathogenesis of CPO is not completely understood. Environmental factors, such as smoking, alcohol consumption, intake of drugs during pregnancy, advanced paternal age, have been demonstrated to be a risk of CPO, but conflicting results have also been published. Insufficient intake of folic acid during the pregnancy has been suggested to increase the risk for CPO. The demonstrated risk for siblings and the higher risk for monozygotic twins suggest a genetic etiopathogenesis for CPO. In some cases of CPO a prevalent mode of inheritance has been reported, but oligogenic models with reduced penetrance, and the risk related to environmental factors have also been proved. One of the first manifestations associated with CPO is difficulty with feeding. Aerophagia is a problem in these infants with CPO and requires more frequent burping and slower feeding. The inability to generate intraoral breath pressure due to nasal air emission in CPO children frequently manifests as articulation difficulties, particularly consonant weakness, and unintelligible speech. Hearing disorders are prevalent among individuals with CPO, as a result of chronic otitis media with effusion due to eustachian tube dysfunction. A multidisciplinary team is essential to manage the many aspects of CPO. In treating CPO, the reconstructive surgeon works in cooperation with otolaryngologists, dentists and orthodontists, speech pathologists, audiologists, geneticists, psychiatrists, maxillofacial surgeons, social workers, and prosthodontists. CPO can be considered a genetically complex disease, but new knowledge and new therapeutic approaches have greatly improved the quality of life of these children. Prenatal diagnosis is an important step in the treatment of this disease.

摘要

单纯腭裂(CPO)是全球最常见的先天性畸形之一。CPO的病因发病机制尚未完全明确。环境因素,如吸烟、饮酒、孕期药物摄入、父亲年龄偏大等,已被证明是CPO的危险因素,但也有相互矛盾的研究结果发表。孕期叶酸摄入不足被认为会增加CPO的发病风险。同胞患病风险以及单卵双胞胎更高的患病风险提示CPO存在遗传病因发病机制。在一些CPO病例中,已报道有显性遗传模式,但也证实了存在外显率降低的寡基因模型以及与环境因素相关的风险。与CPO相关的最早表现之一是喂养困难。吞气症是这些CPO患儿的一个问题,需要更频繁地拍嗝和更缓慢地喂养。由于CPO患儿鼻腔漏气导致无法产生口腔内气压,常表现为发音困难,尤其是辅音发音无力和言语不清。由于咽鼓管功能障碍导致慢性分泌性中耳炎,听力障碍在CPO患者中很常见。多学科团队对于管理CPO的诸多方面至关重要。在治疗CPO时,重建外科医生与耳鼻喉科医生(耳科医生)、牙医和正畸医生、言语病理学家、听力学家、遗传学家、精神科医生、颌面外科医生、社会工作者和口腔修复医生合作。CPO可被视为一种基因复杂的疾病,但新知识和新治疗方法已极大地改善了这些患儿的生活质量。产前诊断是治疗这种疾病的重要一步。