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非综合征性口面部裂隙的家族史:是否存在一种模式?

Family history in non-syndromic orofacial clefts: Is there a pattern?

作者信息

Silva Carolina Maia, Pereira Maria Carolina de Moraes, Queiroz Thaís Bernardes de, Neves Lucimara Teixeira das

机构信息

Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo (Post-Graduation Program in Rehabilitation Sciences-HRAC/USP), Bauru, Brazil.

Bauru School of Dentistry, University of Sao Paulo, (Department of Biological Science - FOB/USP), Bauru, Brazil.

出版信息

Oral Dis. 2022 Nov;28(8):2194-2203. doi: 10.1111/odi.13942. Epub 2021 Jun 29.

DOI:10.1111/odi.13942
PMID:34146367
Abstract

OBJECTIVE

To survey the frequency and pattern of family history for non-syndromic orofacial clefts (NSOFC). Initial hypothesis: more complex forms have a higher frequency of positive family history.

MATERIALS AND METHODS

A retrospective study was carried with 2,668 subjects with three different types of clefts (CL Group (cleft lip), CLP Group (cleft lip and palate), and CP group (cleft palate)); family history information was collected. The Chi-square (X ) and Z-test were used.

RESULTS

A positive family history was found in 31% of the sample. The CLP Group had highest percentage and highest proportion of affected relatives, being these factors statistically significant when compared to the CP Group. Comparisons between the CLP Male and CL Male with CP Male were statistically significant. First-degree kinship was the most frequently found.

CONCLUSIONS

The initial hypothesis was confirmed, subjects with CLP had the highest percentage of positive family history, the highest proportion of affected relatives and had more affected relatives in comparison with CP. It is more common to find affected relatives in the CLP Male and CL Male groups when compared with CP Male. CLP and CP groups present a pattern of occurrence of the type of cleft in the family.

摘要

目的

调查非综合征性口面部裂隙(NSOFC)的家族史频率和模式。初始假设:更复杂的类型有更高频率的阳性家族史。

材料与方法

对2668名患有三种不同类型裂隙的受试者(唇裂组(CL组)、唇腭裂组(CLP组)和腭裂组(CP组))进行回顾性研究;收集家族史信息。使用卡方(X²)检验和Z检验。

结果

在31%的样本中发现有阳性家族史。CLP组受影响亲属的百分比和比例最高,与CP组相比,这些因素具有统计学意义。CLP男性与CL男性和CP男性之间的比较具有统计学意义。一级亲属关系是最常发现的。

结论

初始假设得到证实,CLP患者的阳性家族史百分比最高,受影响亲属的比例最高,且与CP相比有更多受影响的亲属。与CP男性相比,CLP男性和CL男性组中受影响亲属更为常见。CLP组和CP组呈现出家族中裂隙类型的发生模式。

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Eur Arch Paediatr Dent. 2025 Apr 19. doi: 10.1007/s40368-025-01035-4.
2
Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study.唇腭裂的产前诊断:一项回顾性研究。
J Clin Med. 2024 Aug 15;13(16):4804. doi: 10.3390/jcm13164804.
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Isolated nonsyndromic cleft palate: multicenter epidemiological study in the Brazil.孤立性腭裂:巴西的多中心流行病学研究。
BMC Oral Health. 2023 Jul 14;23(1):486. doi: 10.1186/s12903-023-03197-3.