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唇腭裂遗传学再探讨。

Genetics of cleft lip and palate revisited.

作者信息

Batra Puneet, Duggal Ritu, Parkash Hari

机构信息

Division of Orthodontics, Department of Dental Surgery, All India Institute of Medical Sciences, New Delhi, India.

出版信息

J Clin Pediatr Dent. 2003 Summer;27(4):311-20. doi: 10.17796/jcpd.27.4.k7j3628944237392.

Abstract

Cleft lip with or without cleft palate (CL/CP) is one of the most common structural birth defects with treatment including multiple surgeries speech therapy, and dental and orthodontic treatments over the first 18 years of life. Providing care for these patients and families includes educating patients and parents about the genetics of CL/CP, as well as meeting the immediate medical needs. Attempts at identifying susceptibility loci via family and case-control studies have proved inconsistent. It is likely that initial predictions of the complex interactions involved in facial development were underestimated. The candidate gene list for CL/P is getting longer and the need for an impartial systematic screening technique, to implicate or refute the inclusion of particular loci, is apparent. So we are faced with the question "Can this complex trait be too complex?" The aim of this review is to make the dentist aware of the differences between syndromic and non-syndromic cleft as well as understanding the etiological variation in cleft lip with and without cleft palate. This will aid the dentist in diagnosis and give proper genetic counseling to parents and patients of cleft lip and palate.

摘要

唇裂伴或不伴腭裂(CL/CP)是最常见的结构性出生缺陷之一,治疗包括在生命的前18年进行多次手术、言语治疗以及牙科和正畸治疗。为这些患者及其家庭提供护理包括向患者和家长介绍CL/CP的遗传学知识,以及满足他们的即时医疗需求。通过家族研究和病例对照研究来确定易感基因座的尝试结果并不一致。面部发育中复杂相互作用的最初预测可能被低估了。CL/P的候选基因列表越来越长,显然需要一种公正的系统筛选技术来证实或反驳特定基因座的纳入。因此,我们面临着一个问题:“这种复杂性状是否过于复杂?” 本综述的目的是让牙医了解综合征性和非综合征性腭裂之间的差异,以及理解唇裂伴或不伴腭裂的病因变异。这将有助于牙医进行诊断,并为唇腭裂患者及其家长提供适当的遗传咨询。

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